Truncation of the GABA(A)-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus

Recent findings from studies of two families have shown that mutations in the GABA(A)-receptor γ2 subunit are associated with generalized epilepsies and febrile seizures. Here we describe a family that has generalized epilepsy with febrile seizures plus (GEFS(+)), including an individual with severe...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Harkin, Louise A., Bowser, David N., Dibbens, Leanne M., Singh, Rita, Phillips, Fiona, Wallace, Robyn H., Richards, Michaella C., Williams, David A., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Petrou, Steven
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC384926/
https://ncbi.nlm.nih.gov/pubmed/11748509
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados