A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations-Reference-Cited by-同舟云学术

A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations

Published:2013-10-04 Issue:2 Volume:29 Page:265-268
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Al-Bulushi Bashaer¹,Al-Hashem Amal²,Tabarki Brahim¹

Affiliation:

1. Divisions of Pediatric Neurology, Prince Sultan Military Medical City, Kingdom of Saudi Arabia

2. Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Kingdom of Saudi Arabia

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.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073813504623

Reference12 articles.

1. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood

2. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

3. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

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