title: The new voltage gated potassium channel KCNQ5 and neonatal convulsions.
abstract: In 1998, mutations in the voltage gated potassium channel gene KCNQ2 were found to be the main cause underlying the autosomal dominant inherited syndrome of benign familial neonatal convulsions (BFNC). In one BFNC family a mutation was found in an homologous gene, KCNQ3. We have now identified another brain-expressed member of this ion channel subfamily, KCNQ5, which maps to chromosome 6q14. On the genomic level KCNQ5 is composed of 14 exons, which are coding for 897 amino acid residues. Mutation analysis made KCNQ5 unlikely as a candidate gene for benign neonatal convulsions in patients with a positive family history for neonatal or early infantile seizures, but without mutations in the KCNQ2 or KCNQ3 genes.
authors.affiliation: Institute of Human Genetics, University of Bonn, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Kananura
authors.forename: C
authors.initials: C
authors.lastname: Biervert
authors.forename: M
authors.initials: M
authors.lastname: Hechenberger
authors.forename: H
authors.initials: H
authors.lastname: Engels
authors.forename: O K
authors.initials: OK
authors.lastname: Steinlein
mesh_terms: D001483:Base Sequence / Q000235:genetics; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D004252:DNA Mutational Analysis; D004830:Epilepsy, Tonic-Clonic / Q000235:genetics*; D016678:Genome; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051656:KCNQ Potassium Channels; D008969:Molecular Sequence Data; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated
chemical_list: D051656:KCNQ Potassium Channels; C412231:KCNQ5 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated