ArticleNeurology2015
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.
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Article in Neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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39 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.
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- Classification of Current Experimental Models of Epilepsy.Brain sciences · 2024Review
- Effectiveness of add-on acetazolamide in children with drug-resistant CHD2-related epilepsy and in a zebrafish CHD2 model.Epilepsia open · 2024Article
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- Novel syndromic neurodevelopmental disorder caused bymedRxiv : the preprint server for health sciences · 2024Article
- Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.Neurology · 2023Article
- Genetic mechanisms in generalized epilepsies.Acta epileptologica · 2023Review
- Regulation of human cortical interneuron development by the chromatin remodeling protein CHD2.Scientific reports · 2022Article
- Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.Nature reviews. Neurology · 2022Review
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- Clinical Study of 8 Cases ofFrontiers in cell and developmental biology · 2022Article
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Authors and funding
12 authors at 7 institutions in 5 countries.
Rhys H ThomasFrom the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.
Lin Mei ZhangFrom the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.
Gemma L CarvillFrom the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.
John S ArcherFrom the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.
Sinéad B HeavinFrom the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.
Simone A MandelstamFrom the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.
Dana CraiuFrom the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.
Samuel F BerkovicFrom the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.
Deepak S GillFrom the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.
Heather C MeffordFrom the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.
Ingrid E SchefferFrom the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia. scheffer@unimelb.edu.au.
EuroEPINOMICS RES Consortium
Florey Institute of Neuroscience and Mental Health · AUCardiff University · GBUniversity of Washington · USCarol Davila University of Medicine and Pharmacy · ROChildren's Hospital of Fudan University · CNRoyal Children's Hospital · AUUniversity of Melbourne · AU
Funding
An epigenomic approach to identifying noncoding mutations in epilepsyK99NS089858 · NINDS · UNIVERSITY OF WASHINGTON · PI CARVILL, GEMMA LOUISE · 2014 to 2015
$182kNINDS NIH HHS K99 NS089858
Abstract
objectiveTo delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2.
methodsWe analyzed the medical history, MRI, and video-EEG recordings of 9 individuals with de novo CHD2 mutations and one with a de novo 15q26 deletion encompassing CHD2.
resultsSeizures began at a mean of 26 months (12-42) with myoclonic seizures in all 10 cases. Seven exhibited exquisite clinical photosensitivity; 6 self-induced with the television. Absence seizures occurred in 9 patients including typical (4), atypical (2), and absence seizures with eyelid myoclonias (4). Generalized tonic-clonic seizures occurred in 9 of 10 cases with a mean onset of 5.8 years. Convulsive and nonconvulsive status epilepticus were later features (6/10, mean onset 9 years). Tonic (40%) and atonic (30%) seizures also occurred. In 3 cases, an unusual seizure type, the atonic-myoclonic-absence was captured on video. A phenotypic spectrum was identified with 7 cases having moderate to severe intellectual disability and refractory seizures including tonic attacks. Their mean age at onset was 23 months. Three cases had a later age at onset (34 months) with relative preservation of intellect and an initial response to antiepileptic medication.
conclusionThe phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy, marked clinical photosensitivity, atonic-myoclonic-absence, and intellectual disability ranging from mild to severe. Recognition of this genetic entity will permit earlier diagnosis and enable the development of targeted therapies.
Indexed as
AdolescentAdultChildCohort StudiesDNA-Binding ProteinsEpilepsies, MyoclonicFemaleHumansMalePhotic StimulationSeizuresYoung AdultCHD2 protein, humanDNA-Binding Proteins
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