Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.R593W
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ATP1A2

NM_000702.4:p.R593W

Associated Papers

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

McKnight D et al.

Jama Neurology, 2022

36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf

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

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

SoRelle JA et al.

Jama Network Open, 2020

32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf

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 changes in the brain of hemiplegic migraine patients measured with 7 tesla 1H-MRS.

Zielman R et al.

Cephalalgia : an International Journal of Headache, 2014

Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models.

Gritz SM et al.

Human Genomics, 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

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

Migraine: gene mutations and functional consequences.

van den Maagdenberg AM et al.

Current Opinion in Neurology, 2007

[Genetics of migraine].

Freilinger T et al.

Der Nervenarzt, 2006

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.

Vanmolkot KR et al.

European Journal of Human Genetics : Ejhg, 2006

[ATP1A2: a key player in familial hemiplegic migraine].

Blostein R et al.

Medecine Sciences : M/s, 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."