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...

全面介紹

Na minha lista:
書目詳細資料
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
格式: Artigo
語言:Inglês
出版: The American Society of Human Genetics 2002
主題:
Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC384926/
https://ncbi.nlm.nih.gov/pubmed/11748509
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍