Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency.
Journal
bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187
Informations de publication
Date de publication:
13 Jun 2024
13 Jun 2024
Historique:
medline:
25
6
2024
pubmed:
25
6
2024
entrez:
25
6
2024
Statut:
epublish
Résumé
ECHS1 Deficiency (ECHS1D) is a rare and devastating pediatric disease that currently has no defined treatments. This disorder results from missense loss-of-function mutations in the
Identifiants
pubmed: 38915588
doi: 10.1101/2024.06.13.598697
pmc: PMC11195255
pii:
doi:
Types de publication
Journal Article
Preprint
Langues
eng