Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
AHC
ATP1A3
Na+/K+ATPase
animal models
genetics
Journal
The application of clinical genetics
ISSN: 1178-704X
Titre abrégé: Appl Clin Genet
Pays: New Zealand
ID NLM: 101579789
Informations de publication
Date de publication:
2020
2020
Historique:
received:
16
12
2019
accepted:
27
02
2020
entrez:
14
4
2020
pubmed:
14
4
2020
medline:
14
4
2020
Statut:
epublish
Résumé
Alternating hemiplegia of childhood (AHC) is a rare neurological disorder affecting children with an onset before 18 months. Diagnostic clues include transient episodes of hemiplegia alternating in the laterality or quadriparesis, nystagmus and other paroxysmal attacks as tonic and dystonic spells. Epilepsy is also a common feature. In the past, a great effort has been done to understand the genetic basis of the disease leading to the discovery of mutations in the ATP1A3 gene encoding for the alpha3 subunit of Na
Identifiants
pubmed: 32280259
doi: 10.2147/TACG.S210325
pii: 210325
pmc: PMC7125306
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
71-81Informations de copyright
© 2020 Capuano et al.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest in this work.
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