Results 91 to 100 of about 63,715 (255)

Pharmaco‐resistant focal epilepsy of undetermined origin responding to corticosteroids: A clinical vignette

open access: yes
Epileptic Disorders, EarlyView.
Félicien Gautier   +2 more
wiley   +1 more source

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

open access: yesEpilepsia, 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

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort

open access: yesEpilepsia, EarlyView.
Abstract The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125)
Fiona S. McEwen   +12 more
wiley   +1 more source

Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex

open access: yesEpilepsia, EarlyView.
Abstract Objective Drug‐resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective.
Dongjun Guo   +4 more
wiley   +1 more source

A model of symptomatic infantile spasms syndrome

open access: yesNeurobiology of Disease, 2010
Infantile spasms are characterized by age-specific expression of epileptic spasms and hypsarrhythmia and often result in significant cognitive impairment. Other epilepsies or autism often ensue especially in symptomatic IS (SIS).
Morris H. Scantlebury   +5 more
doaj   +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

Outcomes of epileptic spasms in patients aged less than 3 years: single-center United States experience.

open access: yes, 2012
Retrospective review was performed of children aged(\u3c6 \u3emonths) and long-term (≥6 months) outcomes were assessed. We included 173 children (104 boys; median age of onset, 6.8 months) with epileptic spasms of known (62%) and unknown (38%) etiology ...
Vendrame, Martina, MD, PhD   +5 more
core   +2 more sources

Programming of deep brain stimulation of the centromedian nucleus of the thalamus for drug‐resistant epilepsy: A meta‐analysis and proposed programming framework

open access: yesEpilepsia, EarlyView.
Abstract Objective Although the centromedian nucleus of the thalamus (CM) is an increasingly considered deep brain stimulation (DBS) target for drug‐resistant epilepsy (DRE), there is significant variability in programming practices, which may contribute to heterogenous outcomes.
Mohammed A. AlQahtani   +7 more
wiley   +1 more source

Epileptic spasms: Nosological characteristics and approaches to therapy [PDF]

open access: yes, 2013
Objective: to study the incidence, anamnestic, clinical, electroencephalographic, and neuroimaging features of epileptic syndromes associated with epileptic spasms (ES) and the efficiency of antiepileptic therapy in patients with these conditions ...
M. B. Mironov, K. Yu. Mukhin
core   +1 more source

The significance of focal pattern in hypsarrhythmia

open access: yesBrain Disorders
Introduction: Infantile Epileptic Spasms Syndrome (IESS) presents a therapeutic challenge and is frequently associated with developmental delay. It is characterized by seizures and hypsarrhythmia on the EEG and has multiple etiologies that influence ...
Anna Wiedemann   +2 more
doaj   +1 more source

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