Clinical whole exome sequencing revealed
DNA, Deoxyribonucleic acid
Developmental and Epileptic Encephalopathy 4
EEG, Electroencephalogram
Heterozygous
MRI, Magnetic Resonance Imaging
STXBP1
STXBP1, Syntaxin-binding protein 1
Saudi Arabia
Stop-Gain Mutation
WES, Whole exom sequencing
Journal
Saudi journal of biological sciences
ISSN: 1319-562X
Titre abrégé: Saudi J Biol Sci
Pays: Saudi Arabia
ID NLM: 101543796
Informations de publication
Date de publication:
Jul 2022
Jul 2022
Historique:
received:
08
02
2022
revised:
06
03
2022
accepted:
15
05
2022
entrez:
6
6
2022
pubmed:
7
6
2022
medline:
7
6
2022
Statut:
ppublish
Résumé
Intellectual disability and developmental encephalopathies are mostly linked with infant epilepsy. Epileptic encephalopathy is a term that is used to define association between developmental delay and epilepsy. Mutations in the
Identifiants
pubmed: 35663845
doi: 10.1016/j.sjbs.2022.103309
pii: S1319-562X(22)00225-X
pmc: PMC9160351
doi:
Types de publication
Journal Article
Langues
eng
Pagination
103309Informations de copyright
© 2022 The Author(s).
Déclaration de conflit d'intérêts
The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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