Background

Familial hemiplegic migraine (FHM) is an inherited autosomal dominant disorder characterized by migraine with reversible hemiplegia. FHM1 is caused by variants in CACNA1A, encoding a P/Q type neuronal voltage-gated calcium channel α subunit, which is also associated with episodic ataxia type 2 (EA2). FHM2 is associated with ATP1A2, which codes for an Na⁺/K⁺-ATPase isoform 2 subunit.

Case presentation

We identified an FHM2 family, the mother and her daughter, with a novel variant in ATP1A2, p.Gly377Asp, located in a well-conserved P-type ATPase motif. Additionally, the mother harbored deletion in the CACNA1A, associated with EA2, but her daughter did not. The mother presented migraine with typical aura without motor deficit, whereas her daughter had migraine accompanied by recurrent motor deficit and altered consciousness. The additional CACNA1A deletion in the mother might serve as a modifier.

Conclusion

Our report emphasizes the importance of genetic analysis to diagnose neurological ion channel/transporter diseases.

中文翻译：

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由 ATP1A2 中 P 型 ATP 酶基序内的一个新变体与 CACNA1A 变体引起的 2 型偏瘫性偏头痛

背景

家族性偏瘫偏头痛 (FHM) 是一种遗传性常染色体显性遗传疾病，其特征是伴有可逆性偏瘫的偏头痛。FHM1 是由 CACNA1A 中的变异体引起的，编码 P/Q 型神经元电压门控钙通道 α 亚基，它也与发作性共济失调 2 型 (EA2) 相关。FHM2与编码 Na ⁺ /K ⁺ -ATPase 亚型 2 亚基的 ATP1A2 相关。

案例展示

我们鉴定了一个 FHM2 家族，母亲和她的女儿，在 ATP1A2 中具有一个新的变体p.Gly377Asp，位于一个保守的 P 型 ATP 酶基序中。此外，母亲在CACNA1A中存在与 EA2 相关的缺失，但她的女儿没有。母亲的偏头痛具有典型的先兆，但没有运动障碍，而她的女儿偏头痛伴有反复运动障碍和意识改变。母亲中额外的CACNA1A缺失可能作为修饰符。

结论

我们的报告强调了基因分析对诊断神经离子通道/转运蛋白疾病的重要性。