Sichuan University, West China Hospital, Department of Neurology, Chengdu 610064, People's Republic of China.
Cephalalgia. 2017 Nov;37(13):1294-1298. doi: 10.1177/0333102416677049. Epub 2016 Nov 12.
Background Familial hemiplegic migraine (FHM) is a rare type of migraine with aura that is characterized by transient hemiparesis. Mutations in three genes (CACNA1A, ATP1A2, and SCN1A) have been found to cause FHM. Among these, nine SCN1A gene mutations were reported to cause familial hemiplegic migraine type 3 (FHM3). However, none of them was reported in China. Method The clinical manifestations of a Chinese FHM family were recorded and all coding exons and flanking intronic regions of the CACNA1A, ATP1A2, and SCN1A genes were tested for mutations. Results All FHM patients in the investigated family have typical hemiplegic migraine attacks characteristic of FHM. We identified a novel mutation (p.Leu1670Trp) of the SCN1A gene. The affected amino acid is highly conserved across different species and therefore likely plays an important role in SCN1A gene function. Conclusion The identification of a novel mutation in the SCN1A gene in the Chinese population may further aid in the understanding of FHM genetics.
背景 家族性偏瘫性偏头痛（FHM）是一种罕见的有先兆偏头痛类型，其特征为短暂性偏瘫。已发现三种基因（CACNA1A、ATP1A2 和 SCN1A）的突变可导致 FHM。其中，已有九种 SCN1A 基因突变被报道可导致家族性偏瘫性偏头痛 3 型（FHM3）。然而，在中国尚未有相关报道。方法 记录了一个中国 FHM 家族的临床表现，并对 CACNA1A、ATP1A2 和 SCN1A 基因的所有编码外显子和侧翼内含子区域进行了突变检测。结果 该研究家族的所有 FHM 患者均出现典型的 FHM 偏瘫性偏头痛发作。我们发现了 SCN1A 基因的一个新突变（p.Leu1670Trp）。受影响的氨基酸在不同物种中高度保守，因此可能在 SCN1A 基因功能中发挥重要作用。结论 在中国人中发现 SCN1A 基因的新突变可能有助于进一步了解 FHM 的遗传学。
