Genetic updates on paroxysmal dyskinesias.
Dystonia
Exertion-induced
Genetic kinesigenic
Hypnogenic
Nonkinesigenic
Paroxysmal dyskinesia
Journal
Journal of neural transmission (Vienna, Austria : 1996)
ISSN: 1435-1463
Titre abrégé: J Neural Transm (Vienna)
Pays: Austria
ID NLM: 9702341
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
received:
22
02
2021
accepted:
31
03
2021
pubmed:
1
5
2021
medline:
16
10
2021
entrez:
30
4
2021
Statut:
ppublish
Résumé
The paroxysmal dyskinesias are a diverse group of genetic disorders that manifest as episodic movements, with specific triggers, attack frequency, and duration. With recent advances in genetic sequencing, the number of genetic variants associated with paroxysmal dyskinesia has dramatically increased, and it is now evident that there is significant genotype-phenotype overlap, reduced (or incomplete) penetrance, and phenotypic variability. In addition, a variety of genetic conditions can present with paroxysmal dyskinesia as the initial symptom. This review will cover the 34 genes implicated to date and propose a diagnostic workflow featuring judicious use of whole-exome or -genome sequencing. The goal of this review is to provide a common understanding of paroxysmal dyskinesias so basic scientists, geneticists, and clinicians can collaborate effectively to provide diagnoses and treatments for patients.
Identifiants
pubmed: 33929620
doi: 10.1007/s00702-021-02335-x
pii: 10.1007/s00702-021-02335-x
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
447-471Commentaires et corrections
Type : ErratumIn
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