Article
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.
Epilepsia - 1 Apr 2002
Duga Stefano, Asselta Rosanna, Bonati Maria Teresa, Malcovati Massimo, Dalprà Leda, Oldani Alessandro, Zucconi Marco, Ferini-Strambi Luigi, Tenchini Maria Luisa
Abstract excerpt
Twenty-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...
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