A child with febrile and atypical absence seizures caused by a NLGN2 variant

Excitatory and inhibitory (E/I) network dysregulation significantly contributes to the pathogenesis of epilepsy. Neuroligins are postsynaptic cell adhesion molecules that play important roles in maintaining E/I synaptic signaling. The NLGN2 gene, located on 17p13.1, encodes a cell adhesion molecule that is expressed only in the postsynaptic membranes of inhibitory synapses, with high expression in the brain. While NLGN2 variants have been linked to schizophrenia, autism, and developmental delay [ [1] Ali H. Marth L. Krueger-Burg D. Neuroligin-2 as a central organizer of inhibitory synapses in health and disease. Sci Signal. 2020; 13: eabd8379 Crossref Google Scholar ], there are no reports of abnormal NLGN2 variants in patients with epilepsy. Here, we report a novel NLGN2 variant in a female child with fever and atypical absence seizures, expanding the spectrum of clinical phenotypes associated with NLGN2 genetic variants.