NEXMIF variants are associated with epilepsy with or without intellectual disability

The NEXMIF gene (OMIM* 300524), residing on Xq13.3, encodes a neurite extension and migration factor (NEXMIF) protein. It is highly expressed in the cerebral cortex and plays vital roles in neurite outgrowth by regulating cell-cell adhesion[1]. Nexmif hemizygous knockout mice exhibited spontaneous seizures, autism-like behavior, and intellectual disability (ID)[2]. Previsouly, NEXMIF null variants were reported to be associated with X-linked intellectual developmental disorder 98 (XLID98, OMIM# 300912), a severe neurodevelopment disorder syndrome characterized by delayed psychomotor development, poor speech, behavioral abnormalities, or seizures[3].

Source: Seizure: European Journal of Epilepsy - August 18, 2023 Category: Neurology Authors: Zi-Long Ye, Hong-Jun Yan, Qing-Hui Guo, Shu-Qian Zhang, Sheng Luo, Ya-Jun Lian, Yun-Qing Ma, Xin-Guo Lu, Xiao-Rong Liu, Nan-Xiang Shen, Liang-Di Gao, Zheng Chen, Yi-Wu Shi Source Type: research