ArticleAmerican journal of human genetics2013
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers, 1 of them a synthesis that pooled it.
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Who cites it
106 citing papers in PubMed, 1 synthesis or guideline pooled it, 220 citations in OpenAlex.
- Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.Frontiers in neurology · 2022Pooled it
- Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes-Related Neurological Disorders.CNS neuroscience & therapeutics · 2026Article
- Molecular Acrobats: How CHD Remodelers Shape the Genetic Playground to License Cell Identity.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Article
- Diverse species of animal models in epilepsy research: Progress and perspectives.Zoological research · 2025Review
- Automated detection of complex zebrafish seizure behavior at scale.Communications biology · 2025Article
- Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model.European journal of human genetics : EJHG · 2025Article
- Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome.Translational psychiatry · 2025Review
- Epilepsy-associatedFrontiers in neurology · 2025Article
- Adult Phenotype ofNeurology. Genetics · 2024Article
- Effects of two chd2-knockout strains on the morphology and behavior in zebrafish.Development genes and evolution · 2024Article
- 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
- CHD2 Regulates Neuron-Glioma Interactions in Pediatric Glioma.Cancer discovery · 2024Article
- Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.Neurology. Genetics · 2024Article
- Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability.iScience · 2024Article
- Inhibition of Seizure-Like Paroxysms and Toxicity Effects ofACS chemical neuroscience · 2024Article
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
- Article
- Pleiotropy of autism-associated chromatin regulators.Development (Cambridge, England) · 2023Article
46 more citing papers are in PubMed but not listed here.
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Authors and funding
44 authors at 20 institutions in 17 countries.
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Abstract
Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations arise de novo. We studied a cohort of nine Dravet-syndrome-affected individuals without an SCN1A mutation (these included some atypical cases with onset at up to 2 years of age) by using whole-exome sequencing in proband-parent trios. In two individuals, we identified a de novo loss-of-function mutation in CHD2 (encoding chromodomain helicase DNA binding protein 2). A third CHD2 mutation was identified in an epileptic proband of a second (stage 2) cohort. All three individuals with a CHD2 mutation had intellectual disability and fever-sensitive generalized seizures, as well as prominent myoclonic seizures starting in the second year of life or later. To explore the functional relevance of CHD2 haploinsufficiency in an in vivo model system, we knocked down chd2 in zebrafish by using targeted morpholino antisense oligomers. chd2-knockdown larvae exhibited altered locomotor activity, and the epileptic nature of this seizure-like behavior was confirmed by field-potential recordings that revealed epileptiform discharges similar to seizures in affected persons. Both altered locomotor activity and epileptiform discharges were absent in appropriate control larvae. Our study provides evidence that de novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures.
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