Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
Neurogenetics
; 23(1): 27-35, 2022 01.
Article
en En
| MEDLINE
| ID: mdl-34731330
ABSTRACT
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Estado Epiléptico
/
Discapacidad Intelectual
/
Malformaciones del Sistema Nervioso
Tipo de estudio:
Risk_factors_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Neurogenetics
Asunto de la revista:
GENETICA
/
NEUROLOGIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Italia