Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome.
Action Potentials
/ physiology
Animals
Cerebellum
/ metabolism
Cerebral Cortex
/ metabolism
Cognitive Dysfunction
/ genetics
Corpus Striatum
/ metabolism
Dependovirus
/ genetics
Disease Models, Animal
Epilepsies, Myoclonic
/ genetics
Gene Knock-In Techniques
Genetic Therapy
/ methods
Hippocampus
/ metabolism
Humans
Interneurons
/ metabolism
Male
Mice
Mice, Inbred C57BL
Mice, Transgenic
NAV1.1 Voltage-Gated Sodium Channel
/ deficiency
Sudden Unexpected Death in Epilepsy
/ pathology
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
10 01 2022
10 01 2022
Historique:
received:
17
04
2021
accepted:
14
12
2021
entrez:
11
1
2022
pubmed:
12
1
2022
medline:
11
2
2022
Statut:
epublish
Résumé
Dravet syndrome is a severe epileptic encephalopathy caused primarily by haploinsufficiency of the SCN1A gene. Repetitive seizures can lead to endurable and untreatable neurological deficits. Whether this severe pathology is reversible after symptom onset remains unknown. To address this question, we generated a Scn1a conditional knock-in mouse model (Scn1a
Identifiants
pubmed: 35013317
doi: 10.1038/s41467-021-27837-w
pii: 10.1038/s41467-021-27837-w
pmc: PMC8748984
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
161Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2022. The Author(s).
Références
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