Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.
disease models
epilepsy
gene therapy
ion channels
neurodevelopmental
synaptic proteins
Journal
Journal of neurochemistry
ISSN: 1471-4159
Titre abrégé: J Neurochem
Pays: England
ID NLM: 2985190R
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
revised:
18
08
2020
received:
17
06
2020
accepted:
20
08
2020
pubmed:
4
9
2020
medline:
22
6
2021
entrez:
4
9
2020
Statut:
ppublish
Résumé
Neurodevelopmental disorders can be caused by mutations in neuronal genes fundamental to brain development. These disorders have severe symptoms ranging from intellectually disability, social and cognitive impairments, and a subset are strongly linked with epilepsy. In this review, we focus on those neurodevelopmental disorders that are frequently characterized by the presence of epilepsy (NDD + E). We loosely group the genes linked to NDD + E with different neuronal functions: transcriptional regulation, intrinsic excitability and synaptic transmission. All these genes have in common a pivotal role in defining the brain architecture and function during early development, and when their function is altered, symptoms can present in the first stages of human life. The relationship with epilepsy is complex. In some NDD + E, epilepsy is a comorbidity and in others seizures appear to be the main cause of the pathology, suggesting that either structural changes (NDD) or neuronal communication (E) can lead to these disorders. Furthermore, grouping the genes that cause NDD + E, we review the uses and limitations of current models of the different disorders, and how different gene therapy strategies are being developed to treat them. We highlight where gene replacement may not be a treatment option, and where innovative therapeutic tools, such as CRISPR-based gene editing, and new avenues of delivery are required. In general this group of genetically defined disorders, supported increasing knowledge of the mechanisms leading to neurological dysfunction serve as an excellent collection for illustrating the translational potential of gene therapy, including newly emerging tools.
Identifiants
pubmed: 32880951
doi: 10.1111/jnc.15168
pmc: PMC8436749
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
229-262Subventions
Organisme : Epilepsy Research UK
ID : ERUK F1701
Organisme : Medical Research Council
ID : MR/S011005/1
Pays : United Kingdom
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2020 The Authors. Journal of Neurochemistry published by John Wiley & Sons Ltd on behalf of International Society for Neurochemistry.
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