Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.E700K
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ATP1A2

NM_000702.4:p.E700K

Associated Papers

Mechanisms underlying CSD initiation implicated by genetic mouse models of migraine.

Pietrobon D et al.

The Journal of Headache and Pain, 2025

Astrocytic Na+, K+ ATPases in physiology and pathophysiology.

Pietrobon D et al.

Cell Calcium, 2024

Astrocytic Glutamate Transporters and Migraine.

Conti F et al.

Neurochemical Research, 2023

Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2.

Tang C et al.

Cephalalgia : an International Journal of Headache, 2020

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 mutations affect Na,K-ATPase domain interactions.

Swarts HG et al.

Biochimica Et Biophysica Acta, 2013

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

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

Migraine: gene mutations and functional consequences.

van den Maagdenberg AM et al.

Current Opinion in Neurology, 2007

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

A novel ATP1A2 mutation in a family with FHM type II.

Pierelli F et al.

Cephalalgia : an International Journal of Headache, 2006

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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."