| Literature DB >> 10884071 |
C Kananura1, C Biervert, M Hechenberger, H Engels, O K Steinlein.
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.Entities:
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Year: 2000 PMID: 10884071 DOI: 10.1097/00001756-200006260-00050
Source DB: PubMed Journal: Neuroreport ISSN: 0959-4965 Impact factor: 1.837