Cortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy

The developmental and epileptic encephalopathies (DEE) are the most severe group of epilepsies. Recently, NEXMIF mutations have been shown to cause a DEE in females, characterized by myoclonic–atonic epilepsy recurrent nonconvulsive status. Here we used advanced neuroimaging techniques patient with novel de novo mutation presenting absence status eyelid myoclonia, reveal brain structural functional changes that can bring clinical phenotype alteration within specific networks. Indeed, alterations found involved visual pericalcarine cortex middle frontal gyrus, regions demonstrated be core feature phenotypes sensitivity myoclonia absences.