Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.R548H
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ATP1A2

NM_000702.4:p.R548H

Associated Papers

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

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

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

Swarts HG et al.

Biochimica Et Biophysica Acta, 2013

Migraine variants--occurrence in pediatric neurology practice.

Pacheva IH et al.

Clinical Neurology and Neurosurgery, 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

Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation.

Lebas A et al.

Cephalalgia : an International Journal of Headache, 2008

ATP1A2 gene mutations are not present in two sisters with basilar-type migraine associated with menses.

Cologno D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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

Genetic architecture of human pain perception.

Diatchenko L et al.

Trends in Genetics : Tig, 2007

[Genetics of migraine].

Freilinger T et al.

Der Nervenarzt, 2006

The CACNA1A and ATP1A2 genes are not involved in dominantly inherited migraine with aura.

Kirchmann M et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006

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

Blostein R et al.

Medecine Sciences : M/s, 2006

Familial basilar migraine associated with a new mutation in the ATP1A2 gene.

Ambrosini A et al.

Neurology, 2005

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Riant F et al.

Human Mutation, 2005

The molecular genetics of migraine.

Wessman M et al.

Annals of Medicine, 2004

New discoveries about the second gene for familial hemiplegic migraine, ATP1A2.

Vanmolkot KR et al.

The Lancet. Neurology, 2003

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