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

21 May 2012

Abstract excerpt

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...

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PMID: 22606975
DOI: 10.1111/j.1469-1809.2012.00710.x

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