A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.
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.
Maljevic S, et al. Among authors: krampfl k.
Ann Neurol. 2006 Jun;59(6):983-7. doi: 10.1002/ana.20874.
Ann Neurol. 2006.
PMID: 16718694