Epilepsies, myoclonic - Open Access .click

Results 91 to 100 of about 6,465 (257)

A prospective natural history study protocol for clinical trial readiness in synaptic disorders

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee +38 more
wiley +1 more source

Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach

Epilepsia Open
Objective The objective of this study is to report the results of the genetic analysis in a large and well‐characterized population with pediatric‐onset epilepsies and to identify those who could benefit from precision medicine treatments.
Barbara Castellotti +12 more
doaj +1 more source

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

Epilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx +192 more
wiley +1 more source

Introducing the D‐DAND scale: Development of a comprehensive caregiver‐administered tool for Dravet syndrome comorbidities

Epilepsia, EarlyView.
Graphical overview of the Dravet Disease–Associated Neuropsychiatric Disorders (D‐DAND) scale. The D‐DAND scale provides a caregiver‐based, comprehensive assessment of developmental and behavioral comorbidities in Dravet syndrome across six domains: motor abilities, language and social interaction, autonomies, academic skills, emotional/behavioral ...
Bernardo Dalla Bernardina +9 more
wiley +1 more source

Comparative multicenter evaluation of thalamic neuromodulation for treatment‐resistant epilepsy in children

Epilepsia, EarlyView.
Abstract Objective Use of neuromodulation strategies targeting thalamic nuclei, including deep brain stimulation (DBS) and responsive neurostimulation (RNS), for treatment of pediatric drug‐resistant epilepsy (DRE) is increasing, despite limited evidence for efficacy and safety. We present the initial results from the Comparative Multicenter Evaluation
Samuel A. Tenhoeve +28 more
wiley +1 more source

Refining diagnostic boundaries and electroclinical profiles of Lennox–Gastaut syndrome through unsupervised clustering

Epilepsia, EarlyView.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a developmental and epileptic encephalopathy defined by polymorphic seizures, intellectual disability (ID), and characteristic electroencephalographic (EEG) patterns. The applicability and biological validity of current electroclinical criteria remain debated.
Emanuele Cerulli Irelli +12 more
wiley +1 more source

Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses

Frontiers in Cellular Neuroscience
Glucose is the brain’s main fuel source, used in both energy and molecular production. Impaired glucose metabolism is associated with adult and pediatric neurodegenerative diseases such as Alzheimer’s disease (AD), Parkinson’s disease (PD), GLUT1 ...
Lorenzo Santucci +5 more
doaj +1 more source

Electroclinical features and dynamic network connectivity of orbitofrontal epilepsy

Epilepsia, EarlyView.
Abstract Objective Orbitofrontal epilepsy (OFE) is rare and underrecognized. This study aims to characterize electroclinical features and dynamic network connectivity of OFE and subtypes. Methods We retrospectively analyzed 17 patients with OFE who underwent stereoelectroencephalographic (SEEG) electrode implantation and epilepsy surgery at our center.
Meixuan Ren +13 more
wiley +1 more source

The myoclonic epilepsies of childhood

Cleveland Clinic Journal of Medicine, 1989
J, Aicardi, A L, Gomes
openaire +2 more sources

Monthly or menstrual? A scoping review of catamenial epilepsy and non‐menstrual seizure rhythms

Epilepsia, EarlyView.
Abstract Objective Despite the reported high prevalence of catamenial epilepsy (CE), the condition remains poorly defined, with lack of consensus on what entails a menstrual‐related seizure exacerbation. Emerging evidence of multiday cycles of seizure activity, including about‐monthly cycles, present in both men and women, further confound the ...
Victoria Wong +4 more
wiley +1 more source

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