Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

doi:10.1002/ana.24395

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Article

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

Annals of neurology - 1 Jun 2015

Reinthaler Eva M, Dejanovic Borislav, Lal Dennis, Semtner Marcus, Merkler Yvonne, Reinhold Annika, Pittrich Dorothea A, Hotzy Christoph, Feucht Martha, Steinböck Hannelore, Gruber-Sedlmayr Ursula, Ronen Gabriel M, Neophytou Birgit, Geldner Julia, Haberlandt Edda, Muhle Hiltrud, Ikram M Arfan, van Duijn Cornelia M, Uitterlinden Andre G, Hofman Albert, Altmüller Janine, Kawalia Amit, Toliat Mohammad R, Nürnberg Peter, Lerche Holger, Nothnagel Michael, Thiele Holger, Sander Thomas, Meier Jochen C, Schwarz Günter, Neubauer Bernd A, Zimprich Fritz

Abstract excerpt

OBJECTIVE: To test whether mutations in γ-aminobutyric acid type A receptor (GABAA -R) subunit genes contribute to the etiology of rolandic epilepsy (RE) or its atypical variants (ARE). METHODS: We performed exome sequencing to compare the frequency of variants in 18 GABAA -R genes in 204 European patients with RE/ARE versus 728 platform-matched controls. Identified GABRG2 variants were functionally assessed for...

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PMID: 25726841
DOI: 10.1002/ana.24395

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GABRG2

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