Associated Papers
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 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
Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review.
Du Y et al.
Neuropediatrics, 2020
The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families.
Hiekkala ME et al.
Cephalalgia : an International Journal of Headache, 2018
Familial Hemiplegic Migraine With Asymmetric Encephalopathy Secondary to ATP1A2 Mutation: A Case Series.
Murphy OC et al.
Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society, 2018
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
Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation.
Martínez E et al.
Case Reports in Neurological Medicine, 2016
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.
Carreño O et al.
Molecular Genetics & Genomic Medicine, 2013
A case of familial hemiplegic migraine associated with a novel ATP1A2 gene mutation.
De Cunto A et al.
Pediatric 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
Transient nonverbal learning disorder in a child suffering from Familial Hemiplegic Migraine.
Podestà B et al.
Cephalalgia : an International Journal of Headache, 2011
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
Genetics of migraine: an update with special attention to genetic comorbidity.
Stam AH et al.
Current Opinion in Neurology, 2008
A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.
Fernandez DM et al.
Headache, 2008
Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine.
Tonelli A et al.
Clinical Genetics, 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
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
ATP1A2 mutations in 11 families with familial hemiplegic migraine.
Riant F et al.
Human Mutation, 2005