|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We now report two new patients, a Japanese boy and his mother with a pathogenic mutation (c.2452G>A) in ATP1A3, who were diagnosed with CAPOS syndrome.
|
30904181 |
2019 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.
|
29287866 |
2018 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes.
|
29397530 |
2018 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Growing evidence suggests that AHC, RDP and CAPOS syndrome are part of a large and continuously expanding clinical spectrum and share some recurrent clinical features, such as abrupt-onset, asymmetric anatomical distribution and the presence of triggering factors, which are highly suggestive of ATP1A3 mutations.
|
29291920 |
2018 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP1A3 gene, which encodes the alpha<sub>3</sub>-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome.
|
29396171 |
2018 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The genetic testing revealed a de novo heterozygous mutation of c.2452G > A (p.Glu818Lys) in the ATP1A3 gene, which was compatible with the clinical phenotype of CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss)/CAOS syndrome.
|
29625811 |
2018 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
|
29305691 |
2018 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
|
27726050 |
2017 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Through whole exome sequencing and subsequent bioinformatics analysis, two out of the three were found to share a de novo variant, p.E818K of ATP1A3, which had been reported to cause exclusively CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome.
|
29184165 |
2017 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
|
27634470 |
2016 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.
|
27268479 |
2016 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.
|
27091223 |
2016 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndromes.
|
27634470 |
2016 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP1A3 have previously been linked to rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and CAPOS syndrome.
|
25359261 |
2015 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study confirms that the specific c.2452G>A mutation in the ATP1A3 gene is associated with the CAPOS syndrome in pedigrees of different ethnic backgrounds.
|
26453127 |
2015 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
|
26400718 |
2015 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Existing literature on ATP1A3-related disorders in the pediatric population were reviewed, with attention to clinical features and associated genotypes among those with RDP, AHC, or CAPOS syndrome phenotypes.
|
25447930 |
2015 |
|
CAPOS syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The phenotypic spectrum of ATP1A3-related neurological disorders continues to expand beyond the distinct yet overlapping phenotypes in patients with AHC, RDP, and CAPOS syndromes.
|
25447930 |
2015 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
This study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome.
|
24468074 |
2014 |
|
CAPOS syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome.
|
24468074 |
2014 |
|
CAPOS syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
This study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome.
|
24468074 |
2014 |
|
CAPOS syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
|
22850527 |
2012 |
|
CAPOS syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
|
22842232 |
2012 |
|
CAPOS syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
CAPOS syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|