Rodent genetic models of neurodevelopmental disorders and epilepsy.
CDKL5
Epilepsy
MECP2
Neurodevelopmental disorders
SCN1A
SYNGAP1
Journal
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
ISSN: 1532-2130
Titre abrégé: Eur J Paediatr Neurol
Pays: England
ID NLM: 9715169
Informations de publication
Date de publication:
Jan 2020
Jan 2020
Historique:
received:
06
11
2019
accepted:
06
12
2019
pubmed:
25
12
2019
medline:
23
7
2020
entrez:
25
12
2019
Statut:
ppublish
Résumé
Neurodevelopmental disorders (NDDs) are characterised by cognitive, social and motor deficits and are highly comorbid with intractable epilepsies. Through advances in genetic sequencing technologies a vast number of genes have been implicated in NDDs. State-of-the-art gene-editing techniques have led to the generation of hundreds of mouse models of NDDs. As an example, rodent models of Rett and Dravet syndromes as well as the syndromes caused by mutations in CDKL5 and Syngap1 display cognitive deficits in conjunction with seizure phenotypes. These models allow researchers to understand the underlying mechanisms as well as develop novel treatment strategies that can potentially be translated to the clinic. Furthermore, it may be possible to gain insights into the contribution of epilepsy to the progression of cognitive, social and motor phenotypes in NDDs.
Identifiants
pubmed: 31870697
pii: S1090-3798(19)30432-5
doi: 10.1016/j.ejpn.2019.12.012
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
66-69Informations de copyright
Copyright © 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest None.