NEXMIF variants are associated with epilepsy with or without intellectual disability
Zi-Long Ye1, Hong-Jun Yan2, Qing-Hui Guo3
1Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, 510260, China.
Seizure
|August 29, 2023
Summary
NEXMIF gene variants can cause epilepsy, ranging from mild to severe developmental epileptic encephalopathy. The specific type of variant and patient
Area of Science:
- Genetics
- Neurology
- Epilepsy Research
Background:
- NEXMIF variants previously linked to intellectual disability (ID) without epilepsy.
- The association of NEXMIF variants with epilepsy, particularly without ID, remained unclear.
Purpose of the Study:
- To investigate the phenotypic spectrum of NEXMIF variants in epilepsy.
- To explore genotype-phenotype correlations in individuals with NEXMIF variants and epilepsy.
Main Methods:
- Trio-based whole-exome sequencing in epilepsy patients.
- Systematic review of previously reported NEXMIF variants.
Main Results:
- Six NEXMIF variants identified in seven epilepsy cases.
- De novo null variants associated with severe developmental epileptic encephalopathy (DEE).
- Hemizygous missense variants linked to mild focal epilepsy with favorable outcomes.
Conclusions:
- NEXMIF variants are associated with epilepsy, with or without ID.
- Phenotypic variability, from mild epilepsy to DEE, correlates with variant type and gender.
- This expands the understanding of NEXMIF's role in neurological disorders.
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