Results 241 to 250 of about 1,513,760 (300)

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

open access: yesEpilepsia, 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

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS. Methods We identified participants with highest (n = 59) versus lowest (n 
Sophie von Brauchitsch   +27 more
wiley   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry   +23 more
wiley   +1 more source

Theory of mind: A cognitive endophenotype of juvenile myoclonic epilepsy?

open access: yesEpilepsia, 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

Transcriptomic analysis reveals distinct expression patterns in focal cortical dysplasia

open access: yesEpilepsia, EarlyView.
Abstract Objective Focal cortical dysplasia (FCD) is a common cause of drug‐resistant epilepsy in children and adults and exhibits substantial clinical and histopathological heterogeneity. However, morphological classification alone does not fully explain variability in epileptogenicity, disease severity, or treatment response.
Shivani Sonawane   +20 more
wiley   +1 more source

Home - About - Disclaimer - Privacy