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
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
A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2.
Tang W et al.
Cephalalgia : an International Journal of Headache, 2019
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
Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models.
Gritz SM et al.
Human Genomics, 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
Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.
Tavraz NN et al.
The Journal of Biological Chemistry, 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
Migraine: gene mutations and functional consequences.
van den Maagdenberg AM et al.
Current Opinion in Neurology, 2007
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
[ATP1A2: a key player in familial hemiplegic migraine].
Blostein R et al.
Medecine Sciences : M/s, 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
Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation.
Koenderink JB et al.
Biochimica Et Biophysica Acta, 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
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.
Kaunisto MA et al.
Neurogenetics, 2004
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.
Jurkat-Rott K et al.
Neurology, 2004
Functional effects of Na+,K+-ATPase gene mutations linked to familial hemiplegic migraine.
Capendeguy O et al.
Neuromolecular Medicine, 2004
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.
Vanmolkot KR et al.
Annals of Neurology, 2003
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.
De Fusco M et al.
Nature Genetics, 2003