Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.G900R
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ATP1A2

NM_000702.4:p.G900R

Associated Papers

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Vetro A et al.

Brain : a Journal of Neurology, 2021

Cell biology and dynamics of Neuronal Na+/K+-ATPase in health and diseases.

Shrivastava AN et al.

Neuropharmacology, 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 with Severe Attacks: A New Report with ATP1A2 Mutation.

Martínez E et al.

Case Reports in Neurological Medicine, 2016

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

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

Costa C et al.

Cephalalgia : an International Journal of Headache, 2014

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

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

Migraine and epilepsy: genetically linked?

Haan J et al.

Expert Review of Neurotherapeutics, 2008

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

Stam AH et al.

Current Opinion in Neurology, 2008

Epilepsy as part of the phenotype associated with ATP1A2 mutations.

Deprez L et al.

Epilepsia, 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."