Guerin Andrea A, Feigenbaum Annette, Donner Elizabeth J, Yoon Grace
Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada.
Pediatr Neurol. 2008 Nov;39(5):363-4. doi: 10.1016/j.pediatrneurol.2008.07.030.
Mutations in CACNA1A were previously described in familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. We report on an 11-year-old girl with episodes of seizures, ataxia, headache, a decreased level of consciousness, and motor regression, with a background of mental retardation and mild cerebellar atrophy. Sequence analysis of the CACNA1A gene revealed a de novo Ile712Val sequence variant, which was not reported previously.
此前已报道过，CACNA1A基因的突变与家族性偏瘫性偏头痛、2型发作性共济失调及6型脊髓小脑共济失调有关。我们报告了一名11岁女孩，她有癫痫发作、共济失调、头痛、意识水平下降及运动功能退化等症状，伴有智力发育迟缓及轻度小脑萎缩。对CACNA1A基因进行序列分析后发现了一种新的Ile712Val序列变异，此前未见报道。
