期刊
JOURNAL OF CHILD NEUROLOGY
卷 29, 期 2, 页码 265-268出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073813504623
关键词
ATP1A2; hemiplegic attacks; seizures; intellectual disability
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.
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