Novel compound heterozygous mutations in LMAN2L cause early childhood refractory epilepsy.

ABSTRACT:

Background

Autosomal recessive mental retardation-52(MRT52) is a subtype of mental retardation whose clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood. Mutations in the LMAN2L gene resulting in mental retardation and seizures have been previously reported in 3 families. Here we describe 2 children in 1 family who presented with severe intellectual disability and drug-refractory epilepsy( DRE) at 2 months of age.

Methods

Two individuals from 1 family admitted to the pediatric department of Qilu Hospital were included in the study. Whole exome sequencing (WES) was used to detect LMAN2L gene variants. The clinical manifestations, electroencephalography, neuroimaging characteristics and tre

SUBMITTER: Wang T 

PROVIDER: S-EPMC11993992 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature