De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

2013/10/24 by Arvid Suls, Johanna A. Jaehn, Johanna A. Jaehn +92 · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Epilepsy research and treatment #Glycogen Storage Diseases and Myoclonus #Metabolism and Genetic Disorders

paper · pdf · doi:10.1016/j.ajhg.2013.09.017

openalex publication_date 2013/10/24 · crossref created 2013/10/24 · crossref issued 2013/11/01 · crossref published 2013/11/01 · crossref published-print 2013/11/01 · openalex created_date 2025/10/10 · crossref deposited 2025/11/02 · crossref indexed 2026/07/30 · openalex updated_date 2026/08/01

Citations

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

Cited by

• Molecular Acrobats: How CHD Remodelers Shape the Genetic Playground to License Cell Identity
• Epilepsy [wikipedia]