| Literature DB >> 24097848 |
Bashaer Al-Bulushi1, Amal Al-Hashem, Brahim Tabarki.
Abstract
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.Entities:
Keywords: ATP1A2; hemiplegic attacks; intellectual disability; seizures
Mesh：
Substances：
Year: 2013 PMID： 24097848 DOI： 10.1177/0883073813504623
Source DB: PubMed Journal: J Child Neurol ISSN： 0883-0738 Impact factor: 1.987