Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A
复制标题
DOI：
10.1212/01.wnl.0000176069.64200.28
复制
发表时间：
2005-09-27
期刊：
影响因子：
9.9
通讯作者：
Hanna, MG
中科院分区：
文献类型：
--
作者：
Imbrici, P;Eunson, LH;Hanna, MG
Episodic ataxia type 2 (EA2) is caused by calcium channel (CACNA1A) mutations and typically begins before age 20 years. The molecular basis of late-onset EA2 is unclear. The authors describe a case of late-onset EA2 associated with the first multiple-base pair insertion in CACNA1A. Molecular expression revealed evidence of impaired calcium channel function, suggesting that genetically induced reduction in calcium channel function may associate with cases of late-onset EA2.
