A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations. (February 2014)

• Record Type: Journal Article
• Authors: Al-Bulushi, Bashaer; Al-Hashem, Amal; Tabarki, Brahim
• Is Part Of: Journal of child neurology. Volume 29:Number 2(2014:Feb.)
• Page Start: 265
• Page End: 268
• Publication Date: 2014-02
• Subjects: ATP1A2 -- hemiplegic attacks -- seizures -- intellectual disability; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073813504623
• Languages: English
• ISSNs: 0883-0738

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.