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

被引：7

作者：

Buerk, Katrin ^{[1
,2
]}

Strzelczyk, Adam ^{[1
,2
]}

Reif, Philipp S. ^{[1
,2
]}

Figueroa, Karla P. ^{[3
]}

Pulst, Stefan M. ^{[3
,4
]}

Zuehlke, Christine ^{[5
]}

Oertel, Wolfgang H. ^{[1
,2
]}

Hamer, Hajo M. ^{[6
,7
]}

Rosenow, Felix ^{[1
,2
]}

机构：

[1] Univ Marburg, Dept Neurol, D-35043 Marburg, Germany

[2] Univ Marburg, Epilepsy Ctr, D-35043 Marburg, Germany

[3] Univ Utah, Dept Neurol, Salt Lake City, UT USA

[4] Univ Utah, Utah Brain Inst, Salt Lake City, UT USA

[5] Med Univ Lubeck, Inst Human Genet, D-23538 Lubeck, Germany

[6] Univ Erlangen Nurnberg, Dept Neurol, Erlangen, Germany

[7] Univ Erlangen Nurnberg, Epilepsy Ctr, Erlangen, Germany

来源：

INTERNATIONAL JOURNAL OF NEUROSCIENCE | 2013年 / 123卷 / 04期

关键词：

spinocerebellar ataxia; focal epilepsy; SCA; POTASSIUM CHANNEL GENE; EPISODIC ATAXIA; MUTATIONS; PHENOTYPES; SEIZURES; CACNB4;

D O I：

10.3109/00207454.2012.755180

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：278 / 282

页数：5

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