Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.P796R
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ATP1A2

NM_000702.4:p.P796R

Associated Papers

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

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

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

Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.

Castro MJ et al.

Clinical Genetics, 2008

Prolonged hemiplegic episodes in children due to mutations in ATP1A2.

Jen JC et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2007

Familial hemiplegic migraine.

Pietrobon D

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007

[Genetics of migraine].

Freilinger T et al.

Der Nervenarzt, 2006

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

Blostein R et al.

Medecine Sciences : M/s, 2006

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Riant F et al.

Human Mutation, 2005

Migraine genetics: an update.

Haan J et al.

Current Pain and Headache Reports, 2005

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.

Jurkat-Rott K et al.

Neurology, 2004

Genetic biomarkers for migraine.

De Vries B et al.

Headache, 0

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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."