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

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Title: Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13).
Authors: Bürk, Katrin (AUTHOR), Strzelczyk, Adam (AUTHOR), Reif, Philipp S. (AUTHOR), Figueroa, Karla P. (AUTHOR), Pulst, Stefan M. (AUTHOR), Zühlke, Christine (AUTHOR), Oertel, Wolfgang H. (AUTHOR), Hamer, Hajo M. (AUTHOR), Rosenow, Felix (AUTHOR)
Source: International Journal of Neuroscience. Apr2013, Vol. 123 Issue 4, p278-282. 5p.
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. [ABSTRACT FROM AUTHOR]
Copyright of International Journal of Neuroscience is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13).
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  Data: <searchLink fieldCode="AR" term="%22Bürk%2C+Katrin%22">Bürk, Katrin</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Strzelczyk%2C+Adam%22">Strzelczyk, Adam</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Reif%2C+Philipp+S%2E%22">Reif, Philipp S.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Figueroa%2C+Karla+P%2E%22">Figueroa, Karla P.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Pulst%2C+Stefan+M%2E%22">Pulst, Stefan M.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zühlke%2C+Christine%22">Zühlke, Christine</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Oertel%2C+Wolfgang+H%2E%22">Oertel, Wolfgang H.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hamer%2C+Hajo+M%2E%22">Hamer, Hajo M.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rosenow%2C+Felix%22">Rosenow, Felix</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Neuroscience%22">International Journal of Neuroscience</searchLink>. Apr2013, Vol. 123 Issue 4, p278-282. 5p.
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: 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. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of International Journal of Neuroscience is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.3109/00207454.2012.755180
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        Text: English
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      – TitleFull: Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13).
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              Text: Apr2013
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