Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.R879W
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ATP1A2

NM_000702.4:p.R879W

Associated Papers

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

Alfayyadh MM et al.

Genes, 2024

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

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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