Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2014 Feb;29(2):265-8.
doi: 10.1177/0883073813504623. Epub 2013 Oct 4.

A wide clinical phenotype spectrum in patients with ATP1A2 mutations

Bashaer Al-Bulushi  1 , Amal Al-Hashem, Brahim Tabarki
Affiliations
Case Reports

A wide clinical phenotype spectrum in patients with ATP1A2 mutations

Bashaer Al-Bulushi et al. J Child Neurol. 2014 Feb.

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.

Keywords: ATP1A2; hemiplegic attacks; intellectual disability; seizures.

PubMed Disclaimer

Publication types

MeSH terms

Substances