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
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
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
Genetics of migraine: an update with special attention to genetic comorbidity.
Stam AH et al.
Current Opinion in Neurology, 2008
Migraine: gene mutations and functional consequences.
van den Maagdenberg AM et al.
Current Opinion in Neurology, 2007
The genetic spectrum of a population-based sample of familial hemiplegic migraine.
Thomsen LL et al.
Brain : a Journal of Neurology, 2007
Establishing the genetic heterogeneity of familial hemiplegic migraine.
Low N et al.
Brain : a Journal of Neurology, 2007
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