PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
PMID 27268479 2016 Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.
PMID 27634470 2016 De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
rs1064797245 in
ATP1A3 gene and
CAPOS syndrome
PMID 27726050 2017 Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
PMID 27268479 2016 Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.
PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
PMID 27634470 2016 De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
rs1064797245 in
ATP1A3 gene and
DYSTONIA 12
PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
PMID 27726050 2017 Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
PMID 27268479 2016 Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.
PMID 29066118 2018 A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.
PMID 27634470 2016 De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
PMID 29397530 2018 Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
rs1064797245 in
ATP1A3 gene and
Movement Disorders
PMID 28293679 2017 Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.
PMID 11020638 2000 Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.
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PMID 25996915 2015 Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
PMID 25895915 2015 CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
PMID 25656163 2015 Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
PMID 27091223 2016 The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.
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PMID 15260953 2004 Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
PMID 22842232 2012 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
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PMID 2842249 1988 Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.
PMID 29184165 2017 ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
PMID 8496742 1993 Alternating hemiplegia of childhood.
PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.