Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

2013/05/26 by Gemma L. Carvill, Gemma L Carvill, Sinéad B. Heavin +50 · 5 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Epilepsy research and treatment #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases

paper · doi:10.1038/ng.2646

crossref issued 2013/05/26 · crossref published 2013/05/26 · crossref published-online 2013/05/26 · openalex publication_date 2013/05/26 · crossref created 2013/05/26 · crossref published-print 2013/07/01 · crossref deposited 2023/05/18 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01 · crossref indexed 2026/08/05

Citations

• Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009

Cited by

• De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
• De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
• Molecular Acrobats: How CHD Remodelers Shape the Genetic Playground to License Cell Identity
• Neurological disorders associated with DNA strand-break processing enzymes
• Epilepsy [wikipedia]