Cioclu, MC;
Coppola, A;
Tondelli, M;
Vaudano, AE;
Giovannini, G;
Krithika, S;
Iacomino, M;
... Meletti, S; + view all
(2021)
Cortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy.
Frontiers in Neurology
, 12
, Article 722664. 10.3389/fneur.2021.722664.
Preview |
Text
Sisodiya_Cortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy_VoR.pdf - Published Version Download (624kB) | Preview |
Abstract
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.
| Type: | Article |
|---|---|
| Title: | Cortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fneur.2021.722664 |
| Publisher version: | https://doi.org/10.3389/fneur.2021.722664 |
| Language: | English |
| Additional information: | Copyright © 2021 Cioclu, Coppola, Tondelli, Vaudano, Giovannini, Krithika, Iacomino, Zara, Sisodiya and Meletti. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (http://creativecommons.org/licenses/by/4.0/). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| Keywords: | NEXMIF, non convulsive status epilepticus, developmental and epileptic encephalopathy, epilepsy, eyelid myoclonia with absences, fMRI |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10135885 |
Archive Staff Only
 |
View Item |
