Associated Papers
Transient receptor potential vanilloid channel 2 contributes to multi-modal endoplasmic reticulum and perinuclear space dilations that can also be observed in prion-infected mice.
Zhao W et al.
Acta Neuropathologica, 2025
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
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
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
Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.
Schack VR et al.
The Journal of Biological Chemistry, 2012
'Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood'.
Boileau S et al.
Developmental Medicine and Child Neurology, 2008
Epilepsy as part of the phenotype associated with ATP1A2 mutations.
Deprez L et al.
Epilepsia, 2008
Single-photon emission computed tomography in a child with recurrent alternating hemiplegia and quadriplegia.
Wong-Kisiel LC et al.
Pediatric Neurology, 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
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
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
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.
Bassi MT et al.
Journal of Medical Genetics, 2004
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.
Swoboda KJ et al.
Annals of Neurology, 2004