|
Alternating hemiplegia of childhood
|
0.900 |
Biomarker
|
disease |
BEFREE |
ATP1A3 mosaicism in families with alternating hemiplegia of childhood.
|
30891744 |
2019 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the ATP1A3 gene are associated with a wide spectrum of neurological disorders including rapid onset dystonia-parkinsonism and alternating hemiplegia of childhood (AHC).
|
30392841 |
2019 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene.
|
29269014 |
2018 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Together with the two previously reported cases, our patients confirm that ATP1A3 mutations are associated with a phenotype combining features of early-onset encephalopathy, epilepsy and dystonic fits, as in the most severe forms of alternating hemiplegia of childhood, but in which (hemi)plegic attacks are absent or only suspected retrospectively.
|
29861155 |
2018 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP1A3 encoding the catalytic subunit of the Na/K-ATPase expressed in mammalian neurons cause alternating hemiplegia of childhood (AHC) as well as an expanding spectrum of other neurodevelopmental syndromes and neurological phenotypes.
|
29567111 |
2018 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we report on two unrelated cases diagnosed with both COS and alternating hemiplegia of childhood (AHC), and for whom two distinct pathogenic de novo variants were identified in the ATP1A3 gene.
|
29895895 |
2018 |
|
Alternating hemiplegia of childhood
|
0.900 |
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 |
|
Alternating hemiplegia of childhood
|
0.900 |
Biomarker
|
disease |
MGD |
De novo mutations causing dysfunction of the ATP1A3 gene, which encodes the α3 subunit of Na<sup>+</sup>/K<sup>+</sup>-ATPase pump expressed in neurons, result in alternating hemiplegia of childhood (AHC).
|
30071271 |
2018 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease caused by mutations in ATP1A3 gene codifying for alpha3 subunit of Na<sup>+</sup>-K<sup>+</sup> ATPase pump.
|
29395663 |
2018 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes.
|
27726050 |
2017 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations.
|
28637637 |
2017 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We conducted a randomized, double-blind, placebo-controlled crossover study of triheptanoin, at a target dose corresponding to 30% of daily calorie intake, in ten patients with alternating hemiplegia of childhood due to ATP1A3 mutations.
|
28969699 |
2017 |
|
Alternating hemiplegia of childhood
|
0.900 |
Biomarker
|
disease |
MGD |
Missense mutations in ATP1A3 encoding Na(+),K(+)-ATPase α3 are the primary cause of alternating hemiplegia of childhood (AHC).
|
26463346 |
2016 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
|
27634470 |
2016 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in ATP1A3 encoding Na(+),K(+)-ATPase α3 are the primary cause of alternating hemiplegia of childhood (AHC).
|
26463346 |
2016 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A 7-year-old boy with alternating hemiplegia of childhood who was positive for a de novo ATP1A3 mutation was treated with adenosine- 5'- triphosphate supplementation orally as an innovative therapy for 2 years.
|
27146299 |
2016 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific Na(+)/K(+)-ATPase α3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, dystonia, ataxia, hyperactivity, epileptic seizures, and cognitive deficits.
|
27549929 |
2016 |
|
Alternating hemiplegia of childhood
|
0.900 |
Biomarker
|
disease |
MGD |
Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific Na(+)/K(+)-ATPase α3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, dystonia, ataxia, hyperactivity, epileptic seizures, and cognitive deficits.
|
27549929 |
2016 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiplegia of childhood.
|
25643588 |
2015 |
|
Alternating hemiplegia of childhood
|
0.900 |
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 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP1A3, the gene that encodes the α3 subunit of the Na(+)/K(+) ATPase, are the primary cause of alternating hemiplegia of childhood (AHC).
|
25681536 |
2015 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase.
|
25996915 |
2015 |
|
Alternating hemiplegia of childhood
|
0.900 |
Biomarker
|
disease |
BEFREE |
ATP1A3, the gene encoding the α3-subunit of the Na(+) /K(+) -ATPase pump, has been involved in four clinical neurological entities: (1) alternating hemiplegia of childhood (AHC); (2) rapid-onset dystonia parkinsonism (RDP); (3) CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome; and (4) early infantile epileptic encephalopathy.
|
26400718 |
2015 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
|
26410222 |
2015 |
|
Alternating hemiplegia of childhood
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations of ATP1A3 have been associated with rapid onset dystonia-parkinsonism and more recently with alternating hemiplegia of childhood.
|
25656163 |
2015 |