Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.N717K
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ATP1A2

NM_000702.4:p.N717K

Associated Papers

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

Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation.

Martínez E et al.

Case Reports in Neurological Medicine, 2016

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

Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation.

De Sanctis S et al.

Headache, 2011

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

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

Stam AH et al.

Current Opinion in Neurology, 2008

Prolonged hemiplegic episodes in children due to mutations in ATP1A2.

Jen JC et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2007

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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."