Genomes and Genes
Gene Symbol: KCTD7
Description: potassium channel tetramerization domain containing 7
Alias: CLN14, EPM3, BTB/POZ domain-containing protein KCTD7, potassium channel tetramerisation domain containing 7
- Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsyBirgit Krabichler
Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria
Ann Hum Genet 76:326-31. 2012..The potassium channel tetramerization domain containing 7 gene (KCTD7) in the 7q11.21 linkage region emerged as a suitable candidate...
- A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndromeLubov Blumkin
Pediatric Neurology, Wolfson Medical Center, Holon, Israel
J Neurol 259:2590-8. 2012Mutations in the potassium channel-related gene KCTD7 were described so far in a single family with progressive myoclonus epilepsy...
- Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy geneMaria Kousi
Folkhalsan Institute of Genetics, Biomedicum Helsinki, PO Box 63, Haartmaninkatu 8, University of Helsinki, FIN 00014 Helsinki, Finland
J Med Genet 49:391-9. 2012..This study aimed to identify the underlying gene(s) in childhood onset PME patients with unknown molecular genetic background...
- A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome systemJohn F Staropoli
Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA
Am J Hum Genet 91:202-8. 2012..Whereas KCTD7 mutations have previously been linked to PME without lysosomal storage, this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14.
- 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 ..