Journal
JOURNAL OF CHILD NEUROLOGY
Volume 29, Issue 2, Pages 265-268Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073813504623
Keywords
ATP1A2; hemiplegic attacks; seizures; intellectual disability
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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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