De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

2014/09/25 by Silke Appenzeller, Rudi Balling, Nina Barisic +118 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Epilepsy research and treatment #Genetics and Neurodevelopmental Disorders #Mitochondrial Function and Pathology

paper · pdf · doi:10.1016/j.ajhg.2014.08.013

openalex publication_date 2014/09/25 · crossref created 2014/09/25 · crossref issued 2014/10/01 · crossref published 2014/10/01 · crossref published-print 2014/10/01 · openalex created_date 2016/06/24 · crossref deposited 2022/04/17 · crossref indexed 2026/06/28 · openalex updated_date 2026/08/01

Citations

• Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
• De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
• Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009

Cited by

• Epilepsy [wikipedia]