Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.T345A
Back to variants list

ATP1A2

NM_000702.4:p.T345A

Associated Papers

Spontaneous spreading depolarizations originate subcortically in a novel mouse model of familial hemiplegic migraine type 2.

Jansen NA et al.

Neurobiology of Disease, 2024

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

The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families.

Hiekkala ME et al.

Cephalalgia : an International Journal of Headache, 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

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

Martínez E et al.

Case Reports in Neurological Medicine, 2016

Biochemical characterization of sporadic/familial hemiplegic migraine mutations.

Weigand KM et al.

Biochimica Et Biophysica Acta, 2014

Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactions.

Swarts HG et al.

Biochimica Et Biophysica Acta, 2013

Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models.

Gritz SM et al.

Human Genomics, 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

Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.

Schack VR et al.

The Journal of Biological Chemistry, 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

A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.

Fernandez DM et al.

Headache, 2008

Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine.

Tonelli A et al.

Clinical Genetics, 2007

Molecular mechanisms of migraine?

Ramagopalan SV et al.

Journal of Neurology, 2007

Prolonged hemiplegic episodes in children due to mutations in ATP1A2.

Jen JC et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2007

[Genetics of migraine].

Freilinger T et al.

Der Nervenarzt, 2006

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.

Vanmolkot KR et al.

European Journal of Human Genetics : Ejhg, 2006

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

Blostein R et al.

Medecine Sciences : M/s, 2006

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.

Todt U et al.

Human Mutation, 2005

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Riant F et al.

Human Mutation, 2005

Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation.

Koenderink JB et al.

Biochimica Et Biophysica Acta, 2005

Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2.

Segall L et al.

The Journal of Biological Chemistry, 2004

A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.

Kaunisto MA et al.

Neurogenetics, 2004

The molecular genetics of migraine.

Wessman M et al.

Annals of Medicine, 2004

Genetic biomarkers for migraine.

De Vries B et al.

Headache, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."