Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
AMPARs
Cerebellar hypoplasia
GRIA3
Glutamate
Myoclonic status epilepticus
Journal
Neurogenetics
ISSN: 1364-6753
Titre abrégé: Neurogenetics
Pays: United States
ID NLM: 9709714
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
received:
03
03
2021
accepted:
01
08
2021
pubmed:
4
11
2021
medline:
17
3
2022
entrez:
3
11
2021
Statut:
ppublish
Résumé
AMPA-type glutamate receptors (AMPARs) are postsynaptic ionotropic receptors which mediate fast excitatory currents. AMPARs have a heterotetrameric structure, variably composed by the four subunits GluA1-4 which are encoded by genes GRIA1-4. Increasing evidence support the role of pathogenic variants in GRIA1-4 genes as causative for syndromic intellectual disability (ID). We report an Italian pedigree where some male individuals share ID, seizures and facial dysmorphisms. The index subject was referred for severe ID, myoclonic seizures, cerebellar signs and short stature. Whole exome sequencing identified a novel variant in GRIA3, c.2360A > G, p.(Glu787Gly). The GRIA3 gene maps to chromosome Xq25 and the c.2360A > G variant was transmitted by his healthy mother. Subsequent analysis in the family showed a segregation pattern compatible with the causative role of this variant, further supported by preliminary functional insights. We provide a detailed description of the clinical evolution of the index subjects and stress the relevance of myoclonic seizures and cerebellar syndrome as cardinal features of his presentation.
Identifiants
pubmed: 34731330
doi: 10.1007/s10048-021-00666-1
pii: 10.1007/s10048-021-00666-1
pmc: PMC8782781
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
27-35Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2021. The Author(s).
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