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].

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