Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.D718N
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ATP1A2

NM_000702.4:p.D718N

Associated Papers

Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.

Ng AC et al.

Journal of Neurology, 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

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

Gotra P et al.

Molecular Neurobiology, 2021

The genetic relationship between epilepsy and hemiplegic migraine.

Huang Y et al.

Neuropsychiatric Disease and Treatment, 2017

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

Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation.

De Sanctis S et al.

Headache, 2011

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

Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation.

Freilinger T et al.

Cephalalgia : an International Journal of Headache, 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

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

[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

A novel ATP1A2 mutation in a family with FHM type II.

Pierelli F et al.

Cephalalgia : an International Journal of Headache, 2006

Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation.

Vanmolkot KR et al.

Annals of Neurology, 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

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

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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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."