Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy.
genetics
juvenile myoclonic epilepsy
neurophysiology
polymorphism
polyphasia
transcranial magnetic stimulation
whole exome sequencing
Journal
Frontiers in integrative neuroscience
ISSN: 1662-5145
Titre abrégé: Front Integr Neurosci
Pays: Switzerland
ID NLM: 101477950
Informations de publication
Date de publication:
2020
2020
Historique:
received:
31
03
2020
accepted:
21
07
2020
entrez:
25
9
2020
pubmed:
26
9
2020
medline:
26
9
2020
Statut:
epublish
Résumé
Transcranial magnetic stimulation (TMS), a non-invasive procedure, stimulates the cortex evaluating the central motor pathways. The response is called motor evoked potential (MEP). Polyphasia results when the response crosses the baseline more than twice (zero crossing). Recent research shows MEP polyphasia in patients with generalized genetic epilepsy (GGE) and their first-degree relatives compared with controls. Juvenile Myoclonic Epilepsy (JME), a GGE type, is not well studied regarding polyphasia. In our study, we assessed polyphasia appearance probability with TMS in JME patients, their healthy first-degree relatives and controls. Two genetic approaches were applied to uncover genetic association with polyphasia. 20 JME patients, 23 first-degree relatives and 30 controls underwent TMS, obtaining 10-15 MEPs per participant. We evaluated MEP mean number of phases, proportion of MEP trials displaying polyphasia for each subject and variability between groups. Participants underwent whole exome sequencing (WES) via trio-based analysis and two-case scenario. Extensive bioinformatics analysis was applied. We identified increased polyphasia in patients (85%) and relatives (70%) compared to controls (47%) and significantly higher mean number of zero crossings (i.e., occurrence of phases) (patients 1.49, relatives 1.46, controls 1.22; Polyphasia was present in JME patients and relatives in contrast to controls. Although no known clinical symptoms are linked to polyphasia this neurophysiological phenomenon is likely due to common cerebral electrophysiological abnormality. We did not discover direct association between genetic variants obtained and polyphasia. It is likely these genetic traits alone cannot provoke polyphasia, however, this predisposition combined with disturbed brain-electrical activity and tendency to generate seizures may increase the risk of developing polyphasia, mainly in patients and relatives.
Identifiants
pubmed: 32973469
doi: 10.3389/fnint.2020.00045
pmc: PMC7468511
doi:
Types de publication
Journal Article
Langues
eng
Pagination
45Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG009088
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG008895
Pays : United States
Informations de copyright
Copyright © 2020 Stefani, Kousiappa, Nicolaou, Papathanasiou, Oulas, Fanis, Neocleous, Phylactou, Spyrou and Papacostas.
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