Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review

IF 2.3 3区医学 Q2 BEHAVIORAL SCIENCES

Epilepsy & Behavior Pub Date : 2025-03-05 DOI:10.1016/j.yebeh.2025.110338

Shuyao Zhu , Hui Zhu , Xingyu Liu , Jinglin Liu , Guanghuan Pi , Li Yang , Zemin Luo , Jun Fan , Fu Xiong , Wenwen Zhang , Jiaji Zhou , Lan Zeng , Ai Chen

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引用次数: 0

Abstract

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 ODLURO syndrome and epilepsy.

Methods

We summarized and analyzed data from 30 patients with ODLURO syndrome and epilepsy from the systematic literature and DECIPHER database. Information regarding seizure classification, brain MRI findings, antiseizure medications, and genetics variations was collected and analyzed retrospectively.

Results

The risk factors associated with epilepsy in ODLURO syndrome remain unclear, and clinical heterogeneity exists. While focal seizures are most prevalent, various epilepsy classifications are observed. Brain MRI findings indicated that cerebral atrophy and cystic changes were common, though no correlation with epilepsy was established. Among ten individuals with a record of antiseizure medication, approximately 70% required two or more antiseizure medications.

Conclusions

A clear genotype-phenotype correlation remains elusive even among individuals with the same KMT2E variation. The pathogenesis of epilepsy associated with KMT2E variation is complex and necessitates further molecular genetic studies to elucidate the mechanisms underlying these genetic disorders. This research provides essential evidence for specific and individualized treatment approaches.

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来源期刊

Epilepsy & Behavior 医学-行为科学

CiteScore

5.40

自引率

15.40%

发文量

385

审稿时长

43 days

期刊介绍： Epilepsy & Behavior is the fastest-growing international journal uniquely devoted to the rapid dissemination of the most current information available on the behavioral aspects of seizures and epilepsy. Epilepsy & Behavior presents original peer-reviewed articles based on laboratory and clinical research. Topics are drawn from a variety of fields, including clinical neurology, neurosurgery, neuropsychiatry, neuropsychology, neurophysiology, neuropharmacology, and neuroimaging. From September 2012 Epilepsy & Behavior stopped accepting Case Reports for publication in the journal. From this date authors who submit to Epilepsy & Behavior will be offered a transfer or asked to resubmit their Case Reports to its new sister journal, Epilepsy & Behavior Case Reports.