Associated Papers
The Role of Genetic Testing in Pediatric Expressive Language Delay: Evidence from the National Brain Gene Registry.
Waghmare S et al.
Genes, 2026
The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.
Dai L et al.
Brain & Development, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.
Gotra P et al.
Molecular Neurobiology, 2021
Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report.
Fear D et al.
Bmc Neurology, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
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
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
The genetic relationship between epilepsy and hemiplegic migraine.
Huang Y et al.
Neuropsychiatric Disease and Treatment, 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
Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation.
Martínez E et al.
Case Reports in Neurological Medicine, 2016
Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes.
Spiller S et al.
World Journal of Biological Chemistry, 2014
Hemiplegic migraine with reversible cerebral vasoconstriction caused by ATP1A2 mutations.
Hermann A et al.
Journal of Neurology, 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
A new Italian FHM2 family: clinical aspects and functional analysis of the disease-associated mutation.
Santoro L 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
Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation.
Lebas A et al.
Cephalalgia : an International Journal of Headache, 2008
Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation.
Freilinger T et al.
Cephalalgia : an International Journal of Headache, 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
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
[ATP1A2: a key player in familial hemiplegic migraine].
Blostein R et al.
Medecine Sciences : M/s, 2006
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation.
Vanmolkot KR et al.
Annals of Neurology, 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
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
Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine.
Tavraz NN et al.
Channels (austin, Tex.), 0
Hemiplegic Migraine Presenting with Prolonged Somnolence: A Case Report.
Saleh C et al.
Case Reports in Neurology, 0