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Short Report on DNA Marker at Candidate Locus: Dinucleotide polymorphism in the first intron of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4)

Candidate gene for: Recently, in the CHRNA4 gene a missense mutation that replaces serine by phenylalanine at codon 248 in the second transmembrane domain was found in a large Australian pedigree with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (Steinlein et al. 1995). Furthermore, CHRNA4 is a candidate gene for the brainspecific phenotypes benign familial neonatal convulsions (BFNC) and low-voltage EEG (LVEEG) (Steinlein et al. 1994).