GABA<sub>A</sub> Receptor Subunit Mutations and Genetic Epilepsies

Robert L. Macdonald, Jing-Qiong Kang and Martin J. Gallagher

in Jasper's Basic Mechanisms of the Epilepsies

Fourth edition

Published on behalf of ©Jeffrey L. Noebels, Massimo Avoli, Michael A. Rogawski, Richard W. Olsen, and Antonio V. Delgado-Escueta

Published in print July 2012 | ISBN: 9780199746545
Published online April 2013 | e-ISBN: 9780199322817 | DOI:

Series: Contemporary Neurology Series

GABAA Receptor Subunit Mutations and Genetic Epilepsies

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Idiopathic epilepsy syndromes (IES) are common and constitute about 50% of the epilepsies diagnosed worldwide.1 They vary in severity from the relatively benign febrile seizures (FS) and childhood absence epilepsy (CAE) to the severe epilepsy syndrome Dravet syndrome. A common IES is FS plus (FS+), which develops early in childhood with multiple FS that continue to occur beyond 6 years of age or are associated with afebrile seizures.2 Generalized epilepsy with FS plus (GEFS+) is a familial epilepsy syndrome in which multiple family members have either FS, FS+, myoclonic-astatic epilepsy (MAE), and DS.2

Chapter.  5707 words.  Illustrated.

Subjects: Neurology

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