Article
Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review.
Epilepsy & behavior : E&B - 1 Apr 2025
Zhu Shuyao, Zhu Hui, Liu Xingyu, Liu Jinglin, Pi Guanghuan, Yang Li, Luo Zemin, Fan Jun, Xiong Fu, Zhang Wenwen, Zhou Jiaji, Zeng Lan, Chen Ai
Abstract excerpt
BACKGROUND: O'Donnell-Luria-Rodan (ODLURO) syndrome is a newly described neurodevelopmental disorder caused by a pathogenic KMT2E variant. The primary clinical phenotypes include developmental delay, intellectual disability (ID), and epilepsy. Epilepsy, observed in 29% of affected individuals, has not been thoroughly investigated. In this study, we describe the phenotypes and genetic profiles of patients with...
Read the complete abstract on PubMedTopics
- Humans
- Brain
- Epilepsy
- Genetic Association Studies
- Intellectual Disability
- Magnetic Resonance Imaging