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NEXMIF variants are associated with epilepsy with or without intellectual disability.

Seizure - 1 Mar 2024

Ye Zi-Long, Yan Hong-Jun, Guo Qing-Hui, Zhang Shu-Qian, Luo Sheng, Lian Ya-Jun, Ma Yun-Qing, Lu Xin-Guo, Liu Xiao-Rong, Shen Nan-Xiang, Gao Liang-Di, Chen Zheng, Shi Yi-Wu

Abstract excerpt

OBJECTIVES: Variants in NEXMIF had been reported associated with intellectual disability (ID) without epilepsy or developmental epileptic encephalopathy (DEE). It is unkown whether NEXMIF variants are associated with epilepsy without ID. This study aims to explore the phenotypic spectrum of NEXMIF and the genotype-phenotype correlations. MATERIALS AND METHODS: Trio-based whole-exome sequencing was performed in...

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PMID: 37643945
DOI: 10.1016/j.seizure.2023.08.012

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