| Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). | |
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MedLine Citation:
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PMID: 23215817 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: JOURNAL ARTICLE Date: 2012-12-6 |
Journal Detail:
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Title: The International journal of neuroscience Volume: - ISSN: 1563-5279 ISO Abbreviation: Int. J. Neurosci. Publication Date: 2012 Dec |
Date Detail:
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Created Date: 2012-12-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0270707 Medline TA: Int J Neurosci Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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1Department of Neurology and Epilepsy Center , University of Marburg , Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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