期刊
FRONTIERS IN NEUROLOGY
卷 12, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fneur.2021.722664
关键词
NEXMIF; non convulsive status epilepticus; developmental and epileptic encephalopathy; epilepsy; eyelid myoclonia with absences; fMRI
资金
- Grant on Genetic Epilepsies issued by Fondazione LICE
- Epilepsy Society
NEXMIF mutations are shown to cause DEE with eyelid myoclonia. Advanced neuroimaging techniques reveal brain changes affecting specific networks and the clinical phenotype.
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.
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