New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus
New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus
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DOI：
10.1159/000079546
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发表时间：
2004-01-01
影响因子：
2.4
通讯作者：
Furby, A
中科院分区：
文献类型：
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作者：
Beauvais, K;Cavé-Riant, F;Furby, A
家族性偏瘫性偏头痛（FHM）是一种常染色体显性遗传的神经元通道病[1，2]。临床发作通常发生在青春期[3]。发作包括与其他先兆症状相关的单侧无力，如感觉、视觉或言语障碍[1-4]。在某些情况下，也可能存在永久性小脑共济失调[1-5]。CACNA 1A基因位于染色体19 p13，编码主要亚基（o. 1A）神经元P/Q型电压门控钙离子通道[6]。该基因的突变涉及约50%的FHM家族和所有小脑体征家族[2，3]。在这里，我们描述了一个病人患有严重的表型，
Familial hemiplegic migraine (FHM) is an autosomal dominant neuronal channelopathy [1, 2]. Clinical onset usually occurs during adolescence [3]. Attacks include unilateral weakness associated with other aura symptoms such as sensory, visual, or speech disturbances [1–4]. In some cases permanent cerebellar ataxia also may be present [1–5]. The CACNA 1A gene, located on chromosome 19p 13, encodes the main subunit (o. 1A) of the neuronal P/Q type voltage-gated calcium-ion channel [6]. A mutation of this gene is implicated in about 50% of families with FHM and in all families with cerebellar signs [2, 3]. Here we describe a patient suffering from a severe phenotype of