Associated Papers
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
Furukawa S et al.
American Journal of Medical Genetics. Part A, 2024
Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
Arystarkhova E et al.
The Journal of Biological Chemistry, 2023
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
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
Brashear A et al.
Developmental Medicine and Child Neurology, 2012
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
Familial hemiplegic migraine.
Pietrobon D
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.
Castro MJ et al.
Journal of Human Genetics, 2007
[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
ATP1A2 mutations in 11 families with familial hemiplegic migraine.
Riant F et al.
Human Mutation, 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