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

Cioclu, Maria C. and Coppola, Antonietta and Tondelli, Manuela and Vaudano, Anna E. and Giovannini, Giada and Krithika, S. and Iacomino, Michele and Zara, Federico and Sisodiya, Sanjay M. and Meletti, Stefano (2021) Cortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy. Frontiers in Neurology, 12. p. 722664. ISSN 1664-2295

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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 and recurrent nonconvulsive status. Here we used advanced neuroimaging techniques in a patient with a novel NEXMIF de novo mutation presenting with recurrent absence status with eyelid myoclonia, to reveal brain structural and functional changes that can bring the clinical phenotype to alteration within specific brain networks. Indeed, the alterations found in the patient involved the visual pericalcarine cortex and the middle frontal gyrus, regions that have been demonstrated to be a core feature in epilepsy phenotypes with visual sensitivity and eyelid myoclonia with absences.

Item Type: Journal Article
Keywords: NEXMIF, non convulsive status epilepticus, developmental and epileptic encephalopathy, epilepsy, eyelid myoclonia with absences, fMRI
Faculty: Faculty of Science & Engineering
Depositing User: Lisa Blanshard
Date Deposited: 22 Sep 2021 11:09
Last Modified: 17 Jan 2022 15:23

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