Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy
Article first published online: 21 MAY 2012
© 2012 The Authors Annals of Human Genetics © 2012 Blackwell Publishing Ltd/University College London
Annals of Human Genetics
Volume 76, Issue 4, pages 326–331, July 2012
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
- Issue published online: 10 JUN 2012
- Article first published online: 21 MAY 2012
- Received: 10 January 2012 Accepted: 15 March 2012
- Progressive myoclonic epilepsy;
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.