Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.G715R
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ATP1A2

NM_000702.4:p.G715R

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene.

Guan DM et al.

Pharmacogenomics and Personalized Medicine, 2024

Two pediatric patients with hemiplegic migraine presenting as acute encephalopathy: case reports and a literature review.

Xiang Y et al.

Frontiers in Pediatrics, 2023

[Sporadic hemiplegic migraine due to a missense variation in ATP1A2 gene in 2 children].

Zhang HY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-HZGGV2

A case report of atypical hemiplegic migraine with nonheadache onset in a Chinese child.

Chen H et al.

Bmc Neurology, 2021

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

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

Martínez E et al.

Case Reports in Neurological Medicine, 2016

Pearls and pitfalls in genetic studies of migraine.

Eising E et al.

Cephalalgia : an International Journal of Headache, 2013

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

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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."