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
Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.
Ng AC et al.
Journal of Neurology, 2024
A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.
Zhang X et al.
Molecular Genetics & Genomic Medicine, 2023
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
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3.
Sweadner KJ et al.
Neurology. Genetics, 2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.
Wilbur C et al.
Pediatric Neurology, 2017
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
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
Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation.
Lebas A et al.
Cephalalgia : an International Journal of Headache, 2008
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