title: A nonsense mutation in the alpha4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)
abstract: Benign Familial Neonatal Convulsions (BFNC) is an epileptic disorder with an autosomal dominant mode of transmission. It has been shown that about 80% of BFNC pedigrees are linked to a genetic defect on chromosome 20q13.3. A candidate gene for the epilepsies, the gene coding for the alpha4 subunit of the nicotinic cholinergic receptor (CHRNA4), has previously been localized on chromosome 20. Here we report a single point mutation converting a serine codon to a stop codon in the exon 5 of CHRNA4, in one BFNC family. Identification of CHRNA4 as the defective gene in 20q-BFNC represents the first example of a human idiopathic epilepsy caused by a mutation directly affecting a neurotransmitter receptor in the central nervous system.
authors.affiliation: Laboratoire de Médecine Expérimentale, INSERM U 249, CNRS UPR 9008, Institut de Biologie, Montpellier, France.
authors.forename: C
authors.initials: C
authors.lastname: Beck
authors.forename: B
authors.initials: B
authors.lastname: Moulard
authors.forename: O
authors.initials: O
authors.lastname: Steinlein
authors.forename: M
authors.initials: M
authors.lastname: Guipponi
authors.forename: L
authors.initials: L
authors.lastname: Vallee
authors.forename: P
authors.initials: P
authors.lastname: Montpied
authors.forename: M
authors.initials: M
authors.lastname: Baldy-Moulnier
authors.forename: A
authors.initials: A
authors.lastname: Malafosse
mesh_terms: D015342:DNA Probes; D004277:DNA, Single-Stranded / Q000032:analysis; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011978:Receptors, Nicotinic / Q000235:genetics*; D012640:Seizures / Q000235:genetics*
chemical_list: D015342:DNA Probes; D004277:DNA, Single-Stranded; D011978:Receptors, Nicotinic