Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the
Dravet syndrome
Kabuki syndrome
SCN2A
deep phenotyping
functional analysis
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
02
03
2022
accepted:
19
04
2022
entrez:
17
6
2022
pubmed:
18
6
2022
medline:
18
6
2022
Statut:
epublish
Résumé
Febrile-associated epileptic encephalopathy is a large genetically heterogeneous group that is associated with pathogenic variants in
Identifiants
pubmed: 35711923
doi: 10.3389/fgene.2022.888481
pii: 888481
pmc: PMC9194094
doi:
Types de publication
Case Reports
Langues
eng
Pagination
888481Informations de copyright
Copyright © 2022 Sharkov, Sparber, Stepanova, Pyankov, Korostelev and Skoblov.
Déclaration de conflit d'intérêts
AS, DP, and SK were employed by Genomed Ltd. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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