Article
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Neurobiology of disease - 1 Apr 2014
Johnston Ann J, Kang Jing-Qiong, Shen Wangzhen, Pickrell William O, Cushion Thomas D, Davies Jeffrey S, Baer Kristin, Mullins Jonathan G L, Hammond Carrie L, Chung Seo-Kyung, Thomas Rhys H, White Cathy, Smith Phil E M, Macdonald Robert L, Rees Mark I
Abstract excerpt
Genetic mutations in voltage-gated and ligand-gated ion channel genes have been identified in a small number of Mendelian families with genetic generalised epilepsies (GGEs). They are commonly associated with febrile seizures (FS), childhood absence epilepsy (CAE) and particularly with generalised or genetic epilepsy with febrile seizures plus (GEFS+). In clinical practice, despite efforts to categorise epilepsy...
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