Eyelid myoclonia (EM) with or without absences are a rare type of generalized seizures associated with a variety of epilepsy syndromes with an unknown pathophysiology. The aim of this study was to investigate the possible contribution of the brainstem structures in this underrecognized special type of seizures. Sixteen consecutive patients with EM, diagnosed with genetic generalized epilepsy (GGE) according to International League Against Epilepsy 2010 criteria were included. Brainstem excitabilities were examined by blink reflex (BR) studies. The results of BR studies in GGE patients with EM were statistically compared with 2 control groups; namely age- and gender-matched healthy volunteers and juvenile myoclonic epilepsy (JME) patients without any absences and using similar antiepileptic drugs. There were no statistical differences between the thresholds of the BR studies and the BR recovery curves in terms of amplitudes and areas of healthy subjects, JME patients and GGE patients with EM. Our findings do not support a profound interictal hyperexcitability in the BR-related brainstem structures of the GGE patients with EM. It can be considered that EM may be associated with excitability changes of the occipital cortex and other cortical areas.
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http://dx.doi.org/10.1177/1550059416645978 | DOI Listing |
Epilepsia Open
December 2024
Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Generalized epilepsy is classically thought of as a disease of the young and adolescent, with rarely reported cases among older adults. We aimed to analyze management and outcomes in a population sparsely described in the literature through a retrospective single-center cohort design. After excluding individuals without follow-up, we identified 151 people ≥50 years at the time of electrographically confirmed generalized epilepsy.
View Article and Find Full Text PDFNeurol Sci
December 2024
The Division of Neurology at Nemours, Mayo Clinic, Jacksonville, FL, 32207, USA.
Introduction: The effect of felbamate (FBM) on genetic generalized epilepsy (GGE) remains largely unknown. The utilization of FBM has been limited due to its potential risk of aplastic anemia and hepatic failure. This study aimed to comprehensively evaluate the efficacy and safety of FBM in the treatment of drug-resistant GGE.
View Article and Find Full Text PDFJ Community Genet
December 2024
Health Ethics and Policy Lab, Health Sciences and Technologies Department ETH Zurich, Zurich, Switzerland.
Despite many specialized studies on the views of the public or stakeholders who face inherited conditions that may be treatable by HGE, limited studies have focused on experts' views towards Human Gene Editing (HGE). Therefore, in this study we conducted exploratory interviews with 14 experts (scientists, clinicians, social scientists, lawyers) in Switzerland to assess their views towards HGE and how they expect the Swiss public to view HGE. We found general acceptance of Somatic Gene Editing (SGE), but opinions towards Germline Gene Editing (GGE) were more divided.
View Article and Find Full Text PDFHum Genomics
November 2024
Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS - Hôpital La Pitié-Salpêtrière, Paris, France.
Front Pharmacol
October 2024
Department of Neurology, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
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