Genomes and Genes
Gene Symbol: KCTD7
Description: potassium channel tetramerisation domain containing 7
Alias: CLN14, EPM3, BTB/POZ domain-containing protein KCTD7
- Mutation of a potassium channel-related gene in progressive myoclonic epilepsyPatrick Van Bogaert
Department of Pediatric Neurology, Universite Libre de Bruxelles, Hopital Erasme, Brussels, Belgium
Ann Neurol 61:579-86. 2007..We investigated a large consanguineous Moroccan family with progressive myoclonic epilepsy (PME) consistent with autosomal recessive inheritance, to describe the phenotype and identify the causal gene...
- Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN studyNathan E Wineinger
Department of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, USA
BMC Med Genomics 4:4. 2011..We report a genome-wide association study on aortic root diameter among African Americans enrolled in the HyperGEN study. We invoked a two-stage, mixed model procedure to jointly identify SNP allele and copy number variation effects...
- Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neuronsRegis Azizieh
Institute of Interdisciplinary Research IRIBHM ULB, Brussels, Belgium
Mol Neurobiol 44:111-21. 2011The potassium channel tetramerization domain-containing protein 7 (KCTD7) was named after the structural homology of its predicted N-terminal broad complex, tramtrack and bric à brac/poxvirus and zinc finger domain with the T1 domain of ..