A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations
A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations
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DOI：
10.1177/0883073813504623
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发表时间：
2014-02-01
影响因子：
1.9
通讯作者：
Tabarki, Brahim
中科院分区：
文献类型：
--
作者：
Al-Bulushi, Bashaer;Al-Hashem, Amal;Tabarki, Brahim
与ATP1A2突变相关的临床谱正在扩大，包括家族性偏瘫偏头痛、儿童期交替偏瘫和癫痫。我们已经鉴定出了一本C. 1766t . > . C.的小说。（Ile589Thr） ATP1A2基因杂合突变在一个患有偏瘫发作和癫痫发作的沙特亲属中。我们的发现拓宽了ATP1A2突变患者的表型谱。
The clinical spectrum associated with ATP1A2 mutations is expanding and includes familial hemiplegic migraine, alternating hemiplegia of childhood, and epilepsy. We have identified a novel c.1766T>C. (Ile589Thr) heterozygous mutation in the ATP1A2 gene in a Saudi kindred with hemiplegic attacks and seizures. Our findings broaden the phenotypic spectrum of patients with ATP1A2 mutations.