Evidence map›Paper›PMID 29196579›Full record

ArticleNeurology2018

Clinical and molecular characterization of

Amy McTague, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Elena V Gazina, Apostolos Papandreou, Adeline Ngoh, Sally Ackermann, Gautam Ambegaonkar and 19 more

Open access · hybridAbstract read
In one paragraph

Article in Neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed, 3 pooled it
9.7field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

64 citing papers in PubMed, 3 syntheses or guidelines pooled it, 135 citations in OpenAlex.

  1. Pooled it
  2. New use for an old drug: quinidine in KCNT1-related epilepsy therapy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023
    Pooled it
  3. Pooled it
  4. Clinical and Genetic Characteristics ofJournal of epilepsy research · 2026
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4 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

29 authors at 1 institution in 1 country.

Amy McTagueFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK. a.mctague@ucl.ac.uk manju.kurian@ucl.ac.uk.
Umesh NairFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Sony MalhotraFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Esther MeyerFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Natalie TrumpFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Elena V GazinaFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Apostolos PapandreouFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Adeline NgohFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Sally AckermannFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Gautam AmbegaonkarFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Richard AppletonFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Archana DesurkarFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Christin EltzeFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Rachel KneenFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Ajith V KumarFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Karine LascellesFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Tara MontgomeryFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Venkateswaran RameshFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Rajib SamantaFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Richard H ScottFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Jeen TanFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
William WhitehouseFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Annapurna PoduriFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Ingrid E SchefferFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
W K Kling ChongFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
J Helen CrossFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Maya TopfFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Steven PetrouFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.
Manju A KurianFrom Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK. a.mctague@ucl.ac.uk manju.kurian@ucl.ac.uk.
Great Ormond Street Hospital · GB

Funding

Department of Health RP-2016-07-019Medical Research Council MR/L001497/1MRF_ MRF-007-0003-STD-MCTAGWellcome Trust
6 · The paper itself

Abstract

objectiveTo characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset

methodsWe identified a cohort of 31 patients with epilepsy of infancy with migrating focal seizures (EIMFS) and screened for variants in

resultsWe identified pathogenic variants in

conclusionsGain-of-function

Indexed as

MutationAge of OnsetAnimalsAnticonvulsantsChild, PreschoolComputer SimulationEpilepsies, PartialGenetic Predisposition to DiseaseHumansInfantInfant, NewbornMembrane PotentialsModels, GeneticModels, MolecularNerve Tissue ProteinsOocytesAnticonvulsantsKCNT1 protein, humanNerve Tissue ProteinsPotassium Channel BlockersPotassium ChannelsPotassium Channels, Sodium-ActivatedQuinidine

Identifiers

PMID29196579
PMCPMC5754647
OpenAlexW2769543408

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LicenceCC BY
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