Document Detail


Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13).
MedLine Citation:
PMID:  23215817     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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 CNS, the patient presented with a left mesiotemporal EEG focus and left hippocampal sclerosis. This is the first case which reports an association between mesial temporal lobe epilepsy and SCA13. This demonstrates that epilepsy of structural-metabolic cause may be contingent upon genetically defined channelopathies.
Authors:
Katrin Bürk; Adam Strzelczyk; Philipp S Reif; Karla P Figueroa; Stefan M Pulst; Christine Zühlke; Wolfgang H Oertel; Hajo M Hamer; Felix Rosenow
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-12-6
Journal Detail:
Title:  The International journal of neuroscience     Volume:  -     ISSN:  1563-5279     ISO Abbreviation:  Int. J. Neurosci.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-12-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0270707     Medline TA:  Int J Neurosci     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
1Department of Neurology and Epilepsy Center , University of Marburg , Germany.
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