Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.R908Q
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ATP1A2

NM_000702.4:p.R908Q

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.

Chen Y et al.

Seizure, 2025

[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation].

Rudenskaya GE et al.

Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2024

Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Vela V et al.

Virchows Archiv : an International Journal of Pathology, 2022

34494161 (PubMed )
Supplement: 428_2021_3186_MOESM21_ESM.xlsx › Supplementary_Table_8

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- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Vetro A et al.

Brain : a Journal of Neurology, 2021

Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report.

Fear D et al.

Bmc Neurology, 2021

Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review.

Du Y et al.

Neuropediatrics, 2020

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Jaramillo Oquendo C et al.

Scientific Reports, 2019

31320741 (PubMed )
Supplement: 41598_2019_46906_MOESM1_ESM.xlsx › Table_S3

Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2.

Roth C et al.

Journal of the Neurological Sciences, 2018

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

Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura.

Blicher JU et al.

Cephalalgia : an International Journal of Headache, 2016

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

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

Martínez E et al.

Case Reports in Neurological Medicine, 2016

Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes.

Spiller S et al.

World Journal of Biological Chemistry, 2014

Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene.

Roth C et al.

Cephalalgia : an International Journal of Headache, 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

Hemiplegic migraine with reversible cerebral vasoconstriction caused by ATP1A2 mutations.

Hermann A et al.

Journal of Neurology, 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

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

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

de Vries B et al.

Neurology, 2007

Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine.

Tavraz NN et al.

Channels (austin, Tex.), 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."