Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

被引：375

作者：

Robyn H. Wallace

Carla Marini

Steven Petrou

Louise A. Harkin

David N. Bowser

Rekha G. Panchal

David A. Williams

Grant R. Sutherland

John C. Mulley

Ingrid E. Scheffer

Samuel F. Berkovic

机构：

[1] Centre for Medical Genetics,Department of Cytogenetics and Molecular Genetics

[2] Women's and Children's Hospital,Department of Paediatrics

[3] University of Adelaide,Department of Genetics

[4] University of Adelaide,Epilepsy Research Institute and Department of Medicine (Neurology)

[5] University of Melbourne,Department of Physiology

[6] Austin & Repatriation Medical Centre,Department of Neurology

[7] University of Melbourne,undefined

[8] Royal Children's Hospital,undefined

来源：

Nature Genetics | 2001年 / 28卷 / 1期

关键词：

D O I：

10.1038/ng0501-49

中图分类号：

学科分类号：

摘要：

Epilepsies affect at least 2% of the population at some time in life, and many forms have genetic determinants1,2. We have found a mutation in a gene encoding a GABAA receptor subunit in a large family with epilepsy. The two main phenotypes were childhood absence epilepsy (CAE) and febrile seizures (FS). There is a recognized genetic relationship between FS and CAE, yet the two syndromes have different ages of onset, and the physiology of absences and convulsions is distinct. This suggests the mutation has age-dependent effects on different neuronal networks that influence the expression of these clinically distinct, but genetically related, epilepsy phenotypes. We found that the mutation in GABRG2 (encoding the γ2-subunit) abolished in vitro sensitivity to diazepam, raising the possibility that endozepines do in fact exist and have a physiological role in preventing seizures.

引用

页码：49 / 52

页数：3

共 50 条

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