Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.
Epilepsy
Genetics
Inherited epilepsy
Next-generation sequencing
Whole exome sequencing
Journal
Epilepsy & behavior reports
ISSN: 2589-9864
Titre abrégé: Epilepsy Behav Rep
Pays: United States
ID NLM: 101750909
Informations de publication
Date de publication:
2021
2021
Historique:
received:
27
04
2021
revised:
17
08
2021
accepted:
23
08
2021
entrez:
27
9
2021
pubmed:
28
9
2021
medline:
28
9
2021
Statut:
epublish
Résumé
We describe a cohort of 10 unrelated Greek patients (4 females, 6 males; median age 6.5 years, range 2-18 years) with heterogeneous epilepsy syndromes with a genetic basis. In these patients, causative genetic variants, including two novel ones, were identified in 9 known epilepsy-related genes through whole exome sequencing. A patient with glycine encephalopathy was a compound heterozygote for the p.Arg222Cys and the p.Ser77Leu
Identifiants
pubmed: 34568804
doi: 10.1016/j.ebr.2021.100477
pii: S2589-9864(21)00051-4
pmc: PMC8449081
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100477Informations de copyright
© 2021 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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