A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.
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Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber YG, Schlesinger F, Ursu D, Melzer W, Cossette P, Bufler J, Lerche H, Heils A
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.
Ann Neurol. 2006 Jun;59(6):983-7.
- PubMed ID
- 16718694 [ View in PubMed]
- Abstract
OBJECTIVE: To detect mutations in GABRA1 in idiopathic generalized epilepsy. METHODS: GABRA1 was sequenced in 98 unrelated idiopathic generalized epilepsy patients. Patch clamping and confocal imaging was performed in transfected mammalian cells. RESULTS: We identified the first GABRA1 mutation in a patient with childhood absence epilepsy. Functional studies showed no detectable GABA-evoked currents for the mutant, truncated receptor, which was not integrated into the surface membrane. INTERPRETATION: We conclude that this de novo mutation can contribute to the cause of "sporadic" childhood absence epilepsy by a loss of function and haploinsufficiency of the GABA(A) receptor alpha(1)-subunit, and that GABRA1 mutations rarely are associated with idiopathic generalized epilepsy.