Novel compound heterozygous mutations in LMAN2L cause early childhood refractory epilepsy

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...

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Bibliographic Details
Main Authors: Teng Wang, Yan Gao, Yuhan Yan, Ping Yin, Lili Tong, Meng Dong
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Italian Journal of Pediatrics
Subjects:
Intellectual disability
LMAN2L
Epileptic encephalopathy
MRT52
Online Access:https://doi.org/10.1186/s13052-025-01960-6
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https://doi.org/10.1186/s13052-025-01960-6

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