A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
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Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal ModelsThe Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and SenescenceNovel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.Cognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.ATP1A3 Mutation in Adult Rapid-Onset AtaxiaAlternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryDeficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood.Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.The Structure and Function of the Na,K-ATPase Isoforms in Health and Disease.FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype CorrelationsClinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patientsα-synuclein assemblies sequester neuronal α3-Na+/K+-ATPase and impair Na+ gradientAberrant Purkinje cell activity is the cause of dystonia in a shRNA-based mouse model of Rapid Onset Dystonia-Parkinsonism.A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.Alpha 2 Na+,K+-ATPase silencing induces loss of inflammatory response and ouabain protection in glial cells.Sodium pump regulation of locomotor control circuits.Diagnosis and Treatment of Alternating Hemiplegia of Childhood.Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.Cerebellar Ataxia and Hearing Impairment.Sodium Pumps Mediate Activity-Dependent Changes in Mammalian Motor Networks.Signaling function of Na,K-ATPase induced by ouabain against LPS as an inflammation model in hippocampus.Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation.Emerging Monogenic Complex Hyperkinetic Disorders.ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.Atp1a3-deficient heterozygous mice show lower rank in the hierarchy and altered social behavior.Mosaicism in ATP1A3-related disorders: not just a theoretical risk.Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.Novel pregnancy-triggered episodes of CAPOS syndrome.De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
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P2860
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 28 January 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
@en
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
@nl
type
label
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
@en
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
@nl
prefLabel
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
@en
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
@nl
P2093
P2860
P50
P356
P1476
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
@en
P2093
Alan Fryer
Casper Shyr
Clara Dm van Karnebeek
Colin Jd Ross
FORGE Canada Consortium
Michelle K Demos
Mohnish Suri
Shing Hei Zhan
Steven Jm Jones
Yaoqing Shen
P2860
P2888
P356
10.1186/1750-1172-9-15
P577
2014-01-28T00:00:00Z
P5875
P6179
1011088779