Article
Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families.
Journal of neurology - 1 Aug 2002
Bonati Maria Teresa, Combi Romina, Asselta Rosanna, Duga Stefano, Malcovati Massimo, Oldani Alessandro, Zucconi Marco, Ferini-Strambi Luigi, Dalprà Leda, Tenchini Maria Luisa
Abstract excerpt
Members of the ligand-gated neuronal nicotinic acetylcholine receptor (nAChR) gene family ( CHRNA4 and CHRNB2, coding for the alpha4 and beta2 subunits, respectively) are involved in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). However, ADNFLE is genetically heterogeneous and mutations in CHRNA4 and CHRNB2 account for only a minority of ADNFLE cases. Additional nAChR subunits expressed in the...
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