Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.
Epilepsy
KAT6A
Seizures
Spasms
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
received:
16
04
2021
revised:
29
10
2021
accepted:
02
11
2021
pubmed:
9
11
2021
medline:
11
3
2022
entrez:
8
11
2021
Statut:
ppublish
Résumé
Pathogenic variants in KAT6A, encoding a histone acetyltransferase, have been identified as a cause of a developmental disorder with a definite clinical spectrum including intellectual disability, speech delay, dysmorphic facial features, microcephaly, cardiac and gastrointestinal defects. Seizures have been described in a minority of patients without a detailed characterization. In this work we focus on epilepsy in KAT6A syndrome, reporting two affected girls with history of seizures, bearing a KAT6A de novo heterozygous variant, of which one is novel. We describe the different epilepsy phenotypes of these two patients and compare them to the other individuals in literature presenting with epilepsy.
Identifiants
pubmed: 34748993
pii: S1769-7212(21)00246-9
doi: 10.1016/j.ejmg.2021.104380
pii:
doi:
Substances chimiques
Histone Acetyltransferases
EC 2.3.1.48
KAT6A protein, human
EC 2.3.1.48
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
104380Informations de copyright
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