Evidence map›Paper›PMID 34786481›Full record

ArticleNeurology. Genetics2021

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.

Laura Canafoglia, Silvana Franceschetti, Antonio Gambardella, Pasquale Striano, Anna Teresa Giallonardo, Paolo Tinuper, Carlo Di Bonaventura, Roberto Michelucci, Edoardo Ferlazzo, Tiziana Granata and 15 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 1 pooled it
4.3field-weighted citation impact, top 5% 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

17 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.

  1. Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023
    Pooled it
  2. Article
  3. Article
  4. Review
  5. Review
  6. Expanding the spectrum ofFrontiers in genetics · 2025
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  7. Novel, complex configurations of theBrain communications · 2025
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  8. Review
  9. Article
  10. Review
  11. Article
  12. ILAE Genetics Literacy series: Progressive myoclonus epilepsies.Epileptic disorders : international epilepsy journal with videotape · 2023
    Review
  13. Article
  14. Article
  15. Vertebrate Animal Models of RP59: Current Status and Future Prospects.International journal of molecular sciences · 2022
    Review
  16. Review
  17. Non-convulsive Status Epilepticus inFrontiers in pediatrics · 2022
    Article
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

25 authors at 1 institution in 1 country.

Laura CanafogliaNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID 0000-0002-5385-761X
Silvana FranceschettiNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID 0000-0002-1921-6755
Antonio GambardellaNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID 0000-0001-7384-3074
Pasquale StrianoNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID 0000-0002-6065-1476
Anna Teresa GiallonardoNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Paolo TinuperNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Carlo Di BonaventuraNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Roberto MichelucciNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Edoardo FerlazzoNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Tiziana GranataNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Adriana MagauddaNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Laura LicchettaNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Alessandro FillaNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Angela La NeveNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Patrizia RiguzziNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Teresa Anna CantisaniNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Martina FanellaNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Barbara CastellottiNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Cinzia GelleraNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Melanie BahloNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID 0000-0001-5132-0774
Federico ZaraNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Carolina CourageNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Anna-Elina LehesjokiNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID 0000-0003-4014-3113
Karen L OliverNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID 0000-0001-5188-6153
Samuel F BerkovicNeurophysiopathology (L.C., S.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; IRCCS Istituto "G. Gaslini" (P.S., F.Z.), Genova; Department of Neurosciences (P.S., F.Z.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova; Department of Human Neurosciences (T.G., C.D.B., M.F.), Sapienza University of Rome, Viale dell'Università, Rome; IRCCS Istituto delle Scienze Neurologiche di Bologna (P.T., L.L.), Epilepsy Center, Bologna; Department of Biomedical and Neuromotor Sciences (P.T., L.L.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (R.M., P.R.), Unit of Neurology, Bellaria Hospital, Bologna; Regional Epilepsy Centre (E.F.), BMM Great Metropolitan Hospital, Via Melacrino, Reggio Calabria; Department of Pediatric Neuroscience (T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Epilepsy Center (A.M.), Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina; Department of Neuroscience (A.F.), Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples; Department of Basic Medical Sciences (A.L.N.), Neuroscience and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, Bari ; Perugia Hospital (T.A.C,), Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, Perugia; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B.C., C.G.), IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Population Health and Immunity Division (M.B., K.L.O.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.B., K.L.O.), The University of Melbourne; Folkhälsan Research Center (C.C., A.E.L.); Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland; and Epilepsy Research Centre (K.L.O., S.F.B), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID 0000-0003-4580-841X
Istituto Giannina Gaslini · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesTo assess the current diagnostic yield of genetic testing for the progressive myoclonus epilepsies (PMEs) of an Italian series described in 2014 where Unverricht-Lundborg and Lafora diseases accounted for ∼50% of the cohort.

methodsOf 47/165 unrelated patients with PME of indeterminate genetic origin, 38 underwent new molecular evaluations. Various next-generation sequencing (NGS) techniques were applied including gene panel analysis (n = 7) and/or whole-exome sequencing (WES) (WES singleton n = 29, WES trio n = 7, and WES sibling n = 4). In 1 family, homozygosity mapping was followed by targeted NGS. Clinically, the patients were grouped in 4 phenotypic categories: "Unverricht-Lundborg disease-like PME," "late-onset PME," "PME plus developmental delay," and "PME plus dementia."

resultsSixteen of 38 (42%) unrelated patients reached a positive diagnosis, increasing the overall proportion of solved families in the total series from 72% to 82%. Likely pathogenic variants were identified in DISCUSSION: The application of NGS technology to unsolved patients with PME has revealed a collection of very rare genetic causes. Pathogenic variants were detected in both established PME genes and in genes not previously associated with PME, but with progressive ataxia or with developmental encephalopathies. With a diagnostic yield >80%, PME is one of the best genetically defined epilepsy syndromes.

Identifiers

PMID34786481
PMCPMC8589262
OpenAlexW3212027068

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