Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.R689Q
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ATP1A2

NM_000702.4:p.R689Q

Associated Papers

Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.

Gotra P et al.

Molecular Neurobiology, 2021

Epilepsy and migraine-Are they comorbidity?

Liao J et al.

Genes & Diseases, 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

The genetic relationship between epilepsy and hemiplegic migraine.

Huang Y et al.

Neuropsychiatric Disease and Treatment, 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

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

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

Mechanisms of human inherited epilepsies.

Reid CA et al.

Progress in Neurobiology, 2009

Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.

Rochette J et al.

Journal of Medical Genetics, 2008

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

Epilepsy as part of the phenotype associated with ATP1A2 mutations.

Deprez L et al.

Epilepsia, 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

Molecular mechanisms of migraine?

Ramagopalan SV et al.

Journal of Neurology, 2007

Migraine: gene mutations and functional consequences.

van den Maagdenberg AM et al.

Current Opinion in Neurology, 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

No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures.

Martinelli Boneschi F et al.

Neuroscience Letters, 2005

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

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

Update on the genetics of migraine.

Estevez M et al.

Human Genetics, 2004

Functional effects of Na+,K+-ATPase gene mutations linked to familial hemiplegic migraine.

Capendeguy O et al.

Neuromolecular Medicine, 2004

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.

Vanmolkot KR et al.

Annals of Neurology, 2003

Genetic biomarkers for migraine.

De Vries B et al.

Headache, 0

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