Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.S966fs
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ATP1A2

NM_000702.4:p.S966fs

Associated Papers

Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.

Li Y et al.

The Journal of Headache and Pain, 2021

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

ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of Disease.

Friedrich T et al.

Frontiers in Physiology, 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

Molecular genetics of migraine.

de Vries B et al.

Human Genetics, 2009

Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.

Tavraz NN et al.

The Journal of Biological Chemistry, 2008

A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.

Fernandez DM et al.

Headache, 2008

Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine.

Tonelli A et al.

Clinical Genetics, 2007

Familial hemiplegic migraine.

Pietrobon D

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007

[Genetics of migraine].

Freilinger T et al.

Der Nervenarzt, 2006

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Riant F et al.

Human Mutation, 2005

Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine.

Tavraz NN et al.

Channels (austin, Tex.), 0

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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."