KCTD7

Summary

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
Species: human

Top Publications

  1. doi Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy
    Birgit Krabichler
    Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria
    Ann Hum Genet 76:326-31. 2012
  2. doi A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
    Lubov Blumkin
    Pediatric Neurology, Wolfson Medical Center, Holon, Israel
    J Neurol 259:2590-8. 2012
  3. pmc Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
    Maria 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
  4. pmc A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
    John F Staropoli
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA
    Am J Hum Genet 91:202-8. 2012
  5. ncbi Mutation of a potassium channel-related gene in progressive myoclonic epilepsy
    Patrick Van Bogaert
    Department of Pediatric Neurology, Universite Libre de Bruxelles, Hopital Erasme, Brussels, Belgium
    Ann Neurol 61:579-86. 2007
  6. pmc Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study
    Nathan E Wineinger
    Department of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, USA
    BMC Med Genomics 4:4. 2011
  7. doi Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons
    Regis Azizieh
    Institute of Interdisciplinary Research IRIBHM ULB, Brussels, Belgium
    Mol Neurobiol 44:111-21. 2011

Scientific Experts

  • P Van Bogaert
  • Regis Azizieh
  • Nathan E Wineinger
  • Birgit Krabichler
  • Lubov Blumkin
  • Maria Kousi
  • John F Staropoli
  • Katherine B Sims
  • Aarno Palotie
  • Liisa Myllykangas
  • Sara Kivity
  • Sarit Cohen
  • Tally Lerman-Sagie
  • Rosemary Barone
  • Edda Haberlandt
  • Marcy E MacDonald
  • Fusun Alehan
  • Esther Leshinsky-Silver
  • Michael Alber
  • Ruth Shomrat
  • Erik Riesch
  • Johannes Zschocke
  • Meral Topcu
  • Scott H Coppel
  • Johannes R Lemke
  • Christoph Schwarzer
  • Stella Calafato
  • Mark J Daly
  • Winnie Xin
  • Outi Kopra
  • Christine Fauth
  • Karen B Leydiker
  • Sabine Scholl-Burgi
  • Elaine T Lim
  • Kevin Rostasy
  • Eveliina Jakkula
  • Matthias Baumann
  • Kurt Gautsch
  • Verneri Anttila
  • Sarenur Gokben
  • Amel Karaa
  • Dieter Kotzot
  • Stephen G Romansky
  • Hannu Kalimo
  • Angela Schulz
  • Ana Spreiz
  • Andrew Kirby
  • Jose E Abdenur
  • Susan L Cotman
  • Anna Elina Lehesjoki
  • Dorit Lev
  • Naser Elbalalesy
  • Daniela Karall

Detail Information

Publications8

  1. doi Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy
    Birgit 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...
  2. doi A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
    Lubov Blumkin
    Pediatric Neurology, Wolfson Medical Center, Holon, Israel
    J Neurol 259:2590-8. 2012
    Mutations in the potassium channel-related gene KCTD7 were described so far in a single family with progressive myoclonus epilepsy...
  3. pmc Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
    Maria 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...
  4. pmc A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
    John 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.
  5. ncbi Mutation of a potassium channel-related gene in progressive myoclonic epilepsy
    Patrick 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...
  6. pmc Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study
    Nathan 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...
  7. doi Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons
    Regis Azizieh
    Institute of Interdisciplinary Research IRIBHM ULB, Brussels, Belgium
    Mol Neurobiol 44:111-21. 2011
    The 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 ..