Associated Papers
The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns.
Haj Mohammad Hassani B et al.
Neurogenetics, 2024
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2
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
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
The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.
Morth JP et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2009
Genetics of migraine: an update with special attention to genetic comorbidity.
Stam AH et al.
Current Opinion in Neurology, 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
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.
Vanmolkot KR et al.
European Journal of Human Genetics : Ejhg, 2007
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