Results 81 to 90 of about 2,837 (201)
Epilepsia Open, EarlyView.Abstract Objective Lennox–Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types and high resistance to antiseizure medication (ASM), often necessitating nonpharmacologic therapies, including neuromodulation.
Shanna M. Swartwood +11 more
wiley +1 more source
Photic reflex myoclonus: a neurophysiological study in progressive myoclonus epilepsies
, 1999 PURPOSE: To investigate the neurophysiological features of photic reflex myoclonus (PRM) in patients with progressive myoclonus epilepsies (PMEs) of different types (Unverricht-Lundborg disease, Lafora's disease, cryptogenic).
Guido Rubboli +13 more
core +1 more source
Research progress on epilepsy with myoclonic absence
Acta EpileptologicaAbstract Epilepsy with myoclonic absence (EMA) is a rare childhood-onset generalized epilepsy syndrome characterized by myoclonic absence seizures. First discovered by Tassinari et al. in 1969, EMA has been extensively studied by researchers from all over the world. This review synthesizes recent studies on EMA, covering its discovery history,
Tang, Fen +4 more
openaire +2 more sources
Epilepsia Open, EarlyView.Abstract Objective To evaluate the occurrence, clinical correlates, and screening accuracy of depressive symptoms (DS) among adults with epilepsy in Georgia, a country with limited mental health resources. Methods We conducted a cross‐sectional study in adults with epilepsy attending a tertiary care center. We assessed DS using two validated tools: the
Ketevan Silagadze +5 more
wiley +1 more source
Epilepsia Open, EarlyView.Abstract Objectives ES‐481 is a novel potent and selective antagonist of TARP‐y8‐dependent AMPA receptors. We aimed to assess the potential efficacy, safety and tolerability, and pharmacokinetics of different doses of ES‐481 as an add‐on anti‐seizure medication (ASM) in adults with drug‐resistant epilepsy (DRE). Methods This was a Phase 2A double‐blind,
Emma C. Foster +16 more
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan +4 more
wiley +1 more source
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families [PDF]
Progressive myoclonic epilepsies (PMEs) are a group of neurodegenerative disorders, predominantly affecting adolescents and, characterized by generalized worsening myoclonus epilepsies, ataxia, cognitive deficits, and dementia.
Raja, Ghazala Kaukab +11 more
core
Movement Disorders in Developmental and Epileptic Encephalopathies
Movement Disorders Clinical Practice, EarlyView.Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad +2 more
wiley +1 more source
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion
, 2018 Background: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation.
Berkovic, Samuel F +32 more
core +1 more source
Cell Proliferation, EarlyView.CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh +4 more
wiley +1 more source