Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.R383H
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ATP1A2

NM_000702.4:p.R383H

Associated Papers

Recent advances in novel mutation genes of Parkinson's disease.

Yang J et al.

Journal of Neurology, 2023

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

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

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

Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.

Tavraz NN et al.

The Journal of Biological Chemistry, 2008

A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures.

Gallanti A et al.

Journal of the Neurological Sciences, 2008

Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients.

Thomsen LL et al.

Cephalalgia : an International Journal of Headache, 2008

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

de Vries B et al.

Neurology, 2007

Migraine: a complex genetic disorder.

Wessman M et al.

The Lancet. 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

[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

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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