Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13)

Katrin Bürk, Adam Strzelczyk*, Philipp S. Reif, Karla P. Figueroa, Stefan M. Pulst, Christine Zühlke, Wolfgang H. Oertel, Hajo M. Hamer, Felix Rosenow

*Corresponding author for this work
5 Citations (Scopus)

Abstract

We report a female patient of German descent with a molecular diagnosis of SCA13 who presented with a history of cerebellar ataxia and epilepsy. The underlying mutation R420H had been shown to cause a dominant negative effect on the functional properties of the voltage-gated potassium channel KCNC3. Despite widespread KCNC3 expression in the central nervous system, the patient presented with a left mesiotemporal electroencephalogram focus and left hippocampal sclerosis. This is the first case, which reports an association between mesial temporal lobe epilepsy and spinocerebellar ataxia type 13. This demonstrates that epilepsy of structural-metabolic cause may be contingent upon genetically defined channelopathies.

Original languageEnglish
JournalInternational Journal of Neuroscience
Volume123
Issue number4
Pages (from-to)278-282
Number of pages5
ISSN0020-7454
DOIs
Publication statusPublished - 01.04.2013

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