Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of
KCNA1
SLC2A1
paroxysmal dyskinesia
paroxysmal exercise induced dyskinesia
paroxysmal kinesiogenic dyskinesia
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2021
2021
Historique:
received:
27
04
2021
accepted:
28
05
2021
entrez:
26
7
2021
pubmed:
27
7
2021
medline:
27
7
2021
Statut:
epublish
Résumé
Paroxysmal dyskinesias (PxD) are rare movement disorders with characteristic episodes of involuntary mixed hyperkinetic movements. Scientific efforts and technical advances in molecular genetics have led to the discovery of a variety of genes associated with PxD; however, clinical and genetic information of rarely affected genes or infrequent variants is often limited. In our case series, we present two individuals with PxD including one with classical paroxysmal kinesigenic dyskinesia, who carry new likely pathogenic
Identifiants
pubmed: 34305802
doi: 10.3389/fneur.2021.701351
pmc: PMC8297685
doi:
Types de publication
Journal Article
Langues
eng
Pagination
701351Informations de copyright
Copyright © 2021 Kegele, Krüger, Koko, Lange, Marco Hernandez, Martinez, Münchau, Lerche and Lauxmann.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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