The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literature
The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literature
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DOI：
10.1111/j.1468-2982.2009.01884.x
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发表时间：
2009-12-01
期刊：
影响因子：
4.9
通讯作者：
Autret, A.
中科院分区：
文献类型：
--
作者：
Debiais, S.;Hommet, C.;Autret, A.
家族性偏瘫性偏头痛（FHM）是一种罕见的常染色体显性偏头痛亚型，发作时以运动无力为特征。FHM1与19号染色体上CACNA1A基因的突变有关。我们报告一个严重的，长期的HM发作在一个年轻的怀孕患者谁有S218L FHM1。这种CACNA1A突变与轻度头部外伤后的HM、迟发性脑水肿和昏迷有关。我们报告的病例历史表明，与S218L FHM1突变相关的特定，严重的表型和HM和癫痫的共同发生。
Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura that is characterized by motor weakness during attacks. FHM1 is associated with mutations in the CACNA1A gene located on chromosome 19. We report a severe, prolonged HM attack in a young pregnant patient who had the S218L FHM1. This CACNA1A mutation has been associated with HM, delayed cerebral oedema and coma following minor head trauma. The case history we report suggests a specific, severe phenotype and the co-occurrence of HM and epilepsy related to the S218L FHM1 mutation.