Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.E492K
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ATP1A2

NM_000702.4:p.E492K

Associated Papers

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.

Bar O et al.

Frontiers in Neurology, 2023

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

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S13T1

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

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

Molecular genetics of migraine.

de Vries B et al.

Human Genetics, 2009

The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.

Morth JP et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2009

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

Stam AH et al.

Current Opinion in Neurology, 2008

Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.

de Vries B et al.

Neurology, 2007

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