CLCN2基因的突变是特发性全身性癫痫综合征的一种罕见病因。
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.
作者信息
Stogmann E, Lichtner P, Baumgartner C, Schmied M, Hotzy C, Asmus F, Leutmezer F, Bonelli S, Assem-Hilger E, Vass K, Hatala K, Strom T M, Meitinger T, Zimprich F, Zimprich A
机构信息
Department of Neurology, Medical University of Vienna, Allgemeines Krankenhaus Stadt Wien, Waehringer Guertel 18-20, 1090, Vienna, Austria.
出版信息
Neurogenetics. 2006 Nov;7(4):265-8. doi: 10.1007/s10048-006-0057-x. Epub 2006 Aug 24.
Mutations in the chloride channel gene CLCN2 have been reported in families with generalized and focal epilepsy syndromes. To evaluate the contribution of mutations in the CLCN2 gene to the etiology of epilepsies in our population, we screened 96 patients with different epilepsy syndromes and a putative genetic background. No definite mutations were found in our study population. We conclude that mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy.
在患有全身性和局灶性癫痫综合征的家族中，已报道了氯离子通道基因CLCN2的突变。为了评估CLCN2基因突变对我们人群中癫痫病因的影响，我们对96例具有不同癫痫综合征和假定遗传背景的患者进行了筛查。在我们的研究人群中未发现明确的突变。我们得出结论，CLCN2基因突变仅是特发性全身性癫痫的罕见病因。
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