Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.T376M
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ATP1A2

NM_000702.4:p.T376M

Associated Papers

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Chałupczyńska B et al.

Genes, 2026

Pathophysiology of migraine aura.

Sanchez Del Rio M et al.

Handbook of Clinical Neurology, 2023

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Bennett CA et al.

Neurology. Genetics, 2017

28717674 (PubMed )
Supplement: supp_3.4.e163_Table_e-1.xlsx › Other_neurological_disorders

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

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

Martínez E et al.

Case Reports in Neurological Medicine, 2016

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

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

Genetics of migraine: an update with special attention to genetic comorbidity.

Stam AH et al.

Current Opinion in Neurology, 2008

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

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

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.

Castro MJ et al.

Journal of Human Genetics, 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

Genetic biomarkers for migraine.

De Vries B et al.

Headache, 0

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