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

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 and recurrent nonconvulsive status. Here we used advanced neuroimaging techniques in a pati...

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Bibliographic Details
Main Authors: Maria Cristina Cioclu, Antonietta Coppola, Manuela Tondelli, Anna Elisabetta Vaudano, Giada Giovannini, S. Krithika, Michele Iacomino, Federico Zara, Sanjay M. Sisodiya, Stefano Meletti
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Neurology
Subjects:
NEXMIF
non convulsive status epilepticus
developmental and epileptic encephalopathy
epilepsy
eyelid myoclonia with absences
fMRI
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.722664/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2021.722664/full

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