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 Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia
    Sali M K Farhan
    Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
    Epilepsia 55:e106-11. 2014
  2. pmc The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populations
    Yesha M Patel
    Department of Preventive Medicine and Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California
    Cancer Epidemiol Biomarkers Prev 24:119-27. 2015
  3. ncbi KCTD7-related progressive myoclonus epilepsy
    Patrick Van Bogaert
    Department of Pediatric Neurology, Universite Libre de Bruxelles, Hopital Erasme, Belgium
    Epileptic Disord 18:115-119. 2016
  4. ncbi Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
    Marivi Nabong Moen
    1 The Institute of Basic Medical Sciences, Department of Molecular Medicine, University of Oslo, Oslo, Norway
    Brain 139:3109-3120. 2016
  5. pmc Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis
    Robert J Huber
    Department of Biology, Trent University, 2140 East Bank Drive, Peterborough, ON, K9J 7B8, Canada
    J Biomed Sci 23:83. 2016
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Research Grants

  1. J Marie Hardwick; Fiscal Year: 2016

Scientific Experts

  • Robert J Huber
  • P Van Bogaert
  • Regis Azizieh
  • Nathan E Wineinger
  • J Marie Hardwick
  • Marivi Nabong Moen
  • Yesha M Patel
  • Sali M K Farhan
  • Birgit Krabichler
  • Maria Kousi
  • Lubov Blumkin
  • John F Staropoli
  • Heba Y El Khashab
  • Ying Sheng
  • Dag Erik Undlien
  • Farrukh Abbas Chaudhry
  • Kaja Kristine Selmer
  • Bjørnar Hassel
  • Mustafa A Salih
  • Jon K Laerdahl
  • El Hassan Hamdani
  • Magnus Dehli Vigeland
  • Roar Fjær
  • Robin Johansen Menchini
  • Loic Le Marchand
  • Daniel O Stram
  • Christopher A Haiman
  • Sung Shim L Park
  • Sharon E Murphy
  • Brian E Henderson
  • Lynne R Wilkens
  • Asuri N Prasad
  • C Anthony Rupar
  • John F Robinson
  • Lisa M Murphy
  • Robert A Hegele
  • Jian Wang
  • Victoria M Siu
  • Sarenur Gokben
  • Elaine T Lim
  • Karen B Leydiker
  • Stella Calafato
  • Daniela Karall
  • Michael Alber
  • Dorit Lev
  • Christine Fauth
  • Andrew Kirby
  • Liisa Myllykangas
  • Tally Lerman-Sagie
  • Winnie Xin
  • Verneri Anttila
  • Stephen G Romansky
  • Anna Elina Lehesjoki
  • Katherine B Sims
  • Christoph Schwarzer
  • Edda Haberlandt
  • Dieter Kotzot
  • Sara Kivity
  • Kevin Rostasy
  • Johannes R Lemke
  • Naser Elbalalesy
  • Scott H Coppel
  • Outi Kopra
  • Amel Karaa
  • Meral Topcu
  • Aarno Palotie
  • Kurt Gautsch
  • Susan L Cotman
  • Marcy E MacDonald
  • Matthias Baumann
  • Rosemary Barone
  • Sarit Cohen
  • Johannes Zschocke
  • Eveliina Jakkula
  • Ana Spreiz
  • Mark J Daly
  • Esther Leshinsky-Silver
  • Hannu Kalimo
  • Ruth Shomrat
  • Fusun Alehan
  • Angela Schulz
  • Sabine Scholl-Burgi
  • Erik Riesch
  • Jose E Abdenur

Detail Information

Publications13

  1. doi Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia
    Sali M K Farhan
    Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
    Epilepsia 55:e106-11. 2014
    ..We identified p.Tyr276Cys in the potassium channel tetramerization domain-containing seven gene, KCTD7, which is expressed predominantly in the brain...
  2. pmc The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populations
    Yesha M Patel
    Department of Preventive Medicine and Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California
    Cancer Epidemiol Biomarkers Prev 24:119-27. 2015
    ..Evaluating the role of genetics in nicotine metabolism is likely important in understanding these differences, as disparities in risk may be related to differences in nicotine dose and metabolism...
  3. ncbi KCTD7-related progressive myoclonus epilepsy
    Patrick Van Bogaert
    Department of Pediatric Neurology, Universite Libre de Bruxelles, Hopital Erasme, Belgium
    Epileptic Disord 18:115-119. 2016
    Progressive myoclonic epilepsy associated with KCTD7 mutations has been reported in 19 patients from 12 families. Patients show homozygous mutations in the coding regions of the KCTD7 gene. The disease starts in infancy...
  4. ncbi Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
    Marivi Nabong Moen
    1 The Institute of Basic Medical Sciences, Department of Molecular Medicine, University of Oslo, Oslo, Norway
    Brain 139:3109-3120. 2016
    ..the proband we identified a novel homozygous frameshift variant in the potassium channel tetramerization domain 7 (KCTD7) gene (NM_153033.1:c.696delT: p.F232fs), which results in a truncated protein...
  5. pmc Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis
    Robert J Huber
    Department of Biology, Trent University, 2140 East Bank Drive, Peterborough, ON, K9J 7B8, Canada
    J Biomed Sci 23:83. 2016
    ..TPP1/CLN2, CTSD/CLN10, CTSF/CLN13), proteins that peripherally associate with membranes (DNAJC5/CLN4, KCTD7/CLN14), a soluble lysosomal protein (CLN5), a protein present in the secretory pathway (PGRN/CLN11), and several ..
  6. 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...
  7. 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...
  8. 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...
  9. 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
    ..Using a recessive model to filter the identified variants, we found a single homozygous variant, c.550C>T in KCTD7, that causes a p...
  10. 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...
  11. 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...
  12. 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 ..

Research Grants1

  1. J Marie Hardwick; Fiscal Year: 2016
    ..Mutations in KCTD7 cause progressive myoclonic epilepsy (EPM3), infantile onset neuronal ceroid lipofuscinosis (CLN14), and possibly other disorders...