Results 51 to 60 of about 412,527 (171)
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
, 2019 peer reviewedWith regard to the article by Bailey et al. (March 15, 2018, issue) on the potential role of variants in the gene encoding intestinal cell kinase (ICK) in genetic generalized epilepsies, including juvenile myoclonic epilepsy: We attempted ...
BALLING, Rudi +10 more
core +1 more source
Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model
Epilepsia, EarlyView.Abstract Objective γ‐Aminobutyric acidergic (GABAergic) parvalbumin‐positive (PV+) interneurons are critical for maintaining cortical inhibitory tone, with their dysfunction predictably leading to epilepsy. Rapid PV+ interneuron firing is essential for their normal function and is maintained in part by potassium voltage‐gated channels.
Sheryl Anne D. Vermudez +11 more
wiley +1 more source
Sex-specific disease modifiers in juvenile myoclonic epilepsy
Scientific Reports, 2022 Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation.
Amy Shakeshaft +26 more
doaj +1 more source
Theory of mind: A cognitive endophenotype of juvenile myoclonic epilepsy?
Epilepsia, EarlyView.Abstract Objective Juvenile myoclonic epilepsy (JME), the most common idiopathic generalized epilepsy, is associated with neuropsychological and psychiatric comorbidities, including social cognition and theory of mind (ToM) deficits. The interplay between clinical features, social cognition, and their neural and genetic substrates remains poorly ...
Bernardo Crespo‐Pimentel +13 more
wiley +1 more source
Clinical genetic study in juvenile myoclonic epilepsy
, 2014 PurposeTo evaluate clinical features of probands with juvenile myoclonic epilepsy (JME) and affected members of their families in order to study clinical genetics of JME.MethodThirteen unrelated families with at least two members with history of seizures
Kuzmanovski, Igor +2 more
core +1 more source
Epilepsy syndromes classification
Epilepsia Open, EarlyView.Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 more
wiley +1 more source
A variant of idiopathic epilepsy: Clinical note
Неврология, нейропсихиатрия, психосоматика, 2015 The paper describes a clinical case of idiopathic generalized epilepsy with a variable phenotype, a similar type of epileptiform activity in the second stage of sleep, and a similar genotype in siblings.
V. A. Karlov +3 more
doaj +1 more source
Epilepsia Open, EarlyView.Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza +4 more
wiley +1 more source