Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy

EpilepsiaVolume 43, Issue 4, 2002, Pages 362-364Mutational analysis of nicotinic acetylcholine receptor β2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy (Article)Duga, S.a, Asselta, R.a, Bonati, M.T.a, Malcovati, M.a, Dalprà, L.b, Oldani, A.c, Zucconi, M.c, Ferini-Strambi, L.c, Tenchini, M.L.ad a Department of Biology and Genetics for Medical Sciences, University of Milan, IRCCS H. San Raffaele, Milan, Italy b Department of Experimental and Environmental Medicine and Medical Biotechnology, University of Milan-Bicocca, IRCCS H. San Raffaele, Milan, Italy c Sleep Disorders Centre, Università Vita-Salute, IRCCS H. San Raffaele, Milan, Italy View additional affiliationsView references (15)AbstractTwenty-four autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) probands were analyzed for the presence of V287L and V287M mutations in the CHRNB2 gene, which have been recently associated with the disease. In all patients, the involvement of the two additional loci reported as being associated with ADNFLE (CHRNA4 gene and chromosome 15q24 region) had been previously excluded. Mutational screening was performed by sequencing a polymerase chain reaction-amplified CHRNB2 DNA fragment, spanning the whole exon 5, which contains the V287L and V287M mutations and codes for ∼65% of the mature protein. In none of the patients were mutations in the analyzed region of CHRNB2 found. These data, obtained in the largest ADNFLE cohort so far analyzed, demonstrate the rarity of the identified CHRNB2 mutations in ADNFLE patients