Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.V362E
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ATP1A2

NM_000702.4:p.V362E

Associated Papers

A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2.

Tang W et al.

Cephalalgia : an International Journal of Headache, 2019

Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth.

Benke PJ et al.

Pediatric Neurology, 2018

Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation.

Pelzer N et al.

Cephalalgia : an International Journal of Headache, 2017

Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation.

Martínez E et al.

Case Reports in Neurological Medicine, 2016

Neurovascular changes in prolonged migraine aura in FHM with a novel ATP1A2 gene mutation.

Iizuka T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2012

Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans.

Bøttger P et al.

Neuroscience and Biobehavioral Reviews, 2012

Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.

Schack VR et al.

The Journal of Biological Chemistry, 2012

Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.

Ashmore LJ et al.

Human Genetics, 2009

Molecular genetics of migraine.

de Vries B et al.

Human Genetics, 2009

Genetics of migraine: an update with special attention to genetic comorbidity.

Stam AH et al.

Current Opinion in Neurology, 2008

Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.

Castro MJ et al.

Clinical Genetics, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."