Title: A novel GABRG2 mutation associated with febrile seizures
Authors: Audenaert, D ×
Schwartz, E
Claeys, Kristl
Claes, L
Deprez, L
Suls, A
Van Dyck, T
Lagae, Lieven
Van Broeckhoven, C
Macdonald, R L
De Jonghe, P #
Issue Date: Aug-2006
Publisher: Lippincott williams & wilkins
Series Title: Neurology vol:67 issue:4 pages:687-90
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.
ISSN: 0028-3878
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
Brain & Metabolism Section (-)
× corresponding author
# (joint) last author

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