Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.R937P
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ATP1A2

NM_000702.4:p.R937P

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

A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report.

Perrotta A et al.

Frontiers in 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

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

Biochemical characterization of sporadic/familial hemiplegic migraine mutations.

Weigand KM et al.

Biochimica Et Biophysica Acta, 2014

Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes.

Spiller S et al.

World Journal of Biological Chemistry, 2014

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

Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase.

Poulsen H et al.

Nature, 2010

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

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

Prolonged hemiplegic episodes in children due to mutations in ATP1A2.

Jen JC et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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: a key player in familial hemiplegic migraine].

Blostein R et al.

Medecine Sciences : M/s, 2006

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Riant F et al.

Human Mutation, 2005

Genetic biomarkers for migraine.

De Vries B et al.

Headache, 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."