Abstract
Mutations in the gene encoding the gamma2 subunit of the gamma-aminobutyric acid type A receptor (GABRG2) have been reported to cause childhood absence epilepsy (CAE), febrile seizures (FS), and generalized epilepsy with FS plus (GEFS+). The authors analyzed GABRG2 in 47 unrelated patients with CAE, FS, and GEFS+ and identified a novel mutation that cosegregated with FS. Electrophysiologic studies demonstrated altered current desensitization and reduced benzodiazepine enhancement in mutant receptors.
Publication types
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Randomized Controlled Trial
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Belgium / epidemiology
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Child
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Child, Preschool
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DNA Mutational Analysis
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Epilepsy, Absence / genetics*
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Epilepsy, Generalized / genetics*
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Female
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Genetic Predisposition to Disease / epidemiology
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Genetic Predisposition to Disease / genetics
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Heterozygote
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Humans
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Incidence
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Male
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Mutation
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Pedigree
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Prognosis
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Receptors, GABA-A / genetics*
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Risk Assessment / methods*
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Risk Factors
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Seizures, Febrile / genetics*