Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.R879Q
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ATP1A2

NM_000702.4:p.R879Q

Associated Papers

Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches.

Alfayyadh MM et al.

Genes, 2024

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R et al.

Epilepsia Open, 2019

31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2

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

27445835 (PubMed )
Supplement: Table1.PDF

Biochemical characterization of sporadic/familial hemiplegic migraine mutations.

Weigand KM et al.

Biochimica Et Biophysica Acta, 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

Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients.

Thomsen LL et al.

Cephalalgia : an International Journal of Headache, 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."