Short Communication

Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy

  1. Birgit Krabichler1,
  2. Kevin Rostasy2,
  3. Matthias Baumann2,
  4. Daniela Karall2,
  5. Sabine Scholl-Bürgi2,
  6. Christoph Schwarzer4,
  7. Kurt Gautsch3,
  8. Ana Spreiz1,
  9. Dieter Kotzot1,
  10. Johannes Zschocke1,
  11. Christine Fauth1,
  12. Edda Haberlandt1,*

Article first published online: 21 MAY 2012

DOI: 10.1111/j.1469-1809.2012.00710.x

Issue

Annals of Human Genetics

Annals of Human Genetics

Volume 76, Issue 4, pages 326–331, July 2012

Additional Information

How to Cite

Krabichler, B., Rostasy, K., Baumann, M., Karall, D., Scholl-Bürgi, S., Schwarzer, C., Gautsch, K., Spreiz, A., Kotzot, D., Zschocke, J., Fauth, C. and Haberlandt, E. (2012), Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy. Annals of Human Genetics, 76: 326–331. doi: 10.1111/j.1469-1809.2012.00710.x

Author Information

  1. 1

    Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria

  2. 2

    Clinical Department of Pediatrics IV, Division of Neonatology, Neuropediatrics and Inherited Metabolic Diseases, Medical University Innsbruck, Austria

  3. 3

    Clinical Department of Radiology, Innsbruck Medical University, Innsbruck, Austria

  4. 4

    Department of Pharmacology, Medical University Innsbruck, Austria

* Dr. E. Haberlandt, Clinical Department of Pediatrics IV, Division of Neonatology, Neuropediatrics and Inherited Metabolic Diseases, Medical University Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria. Tel.: 0043/512/504-23600; Fax: 0043/512/504-24904; E-mail: edda.haberlandt@uki.at

Publication History

  1. Issue published online: 10 JUN 2012
  2. Article first published online: 21 MAY 2012
  3. Received: 10 January 2012 Accepted: 15 March 2012

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Keywords:

  • Progressive myoclonic epilepsy;
  • children;
  • KCTD7

Summary

Progressive myoclonic epilepsy (PME) is a heterogeneous group of epilepsies characterized by myoclonus, seizures and progressive neurological symptoms.

The index patient was a 6-year old boy showing early-onset therapy resistant PME and severe developmental delay. Genome-wide linkage analysis identified several candidate regions. The potassium channel tetramerization domain containing 7 gene (KCTD7) in the 7q11.21 linkage region emerged as a suitable candidate. Sequence analysis revealed a novel homozygous missense mutation (p.R94W) in a highly conserved segment of exon 2.

This is the second family with PME caused by KCTD7 mutations, hence KCTD7 mutations might be a recurrent cause of PME.

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