Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene.
Dravet syndrome
Febrile seizures
Long-term comorbidities
SCN1A
SUDEP
Journal
Experimental neurology
ISSN: 1090-2430
Titre abrégé: Exp Neurol
Pays: United States
ID NLM: 0370712
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
received:
29
10
2021
revised:
06
04
2022
accepted:
21
04
2022
pubmed:
30
4
2022
medline:
9
6
2022
entrez:
29
4
2022
Statut:
ppublish
Résumé
Dravet Syndrome (DS) is a catastrophic form of paediatric epilepsy associated with multiple comorbidities mainly caused by mutations in the SCN1A gene. DS progresses in three different phases termed febrile, worsening and stabilization stage. Mice that are haploinsufficient for Scn1a faithfully model each stage of DS, although various aspects have not been fully described, including the temporal appearance and sex differences of the epilepsy and comorbidities. The aim of the present study was to investigate the epilepsy landscape according to the progression of DS and the long-term co-morbidities in the Scn1a(+/-) Male and female F1.Scn1a(+/+) and F1.Scn1a(+/-) At P18, F1.Scn1a(+/-) These results reveal new features of this model that will optimize use and selection of phenotype assays for future studies on the mechanisms, diagnosis, and treatment of DS.
Identifiants
pubmed: 35487274
pii: S0014-4886(22)00115-7
doi: 10.1016/j.expneurol.2022.114090
pii:
doi:
Substances chimiques
NAV1.1 Voltage-Gated Sodium Channel
0
Scn1a protein, mouse
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
114090Informations de copyright
Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.