Results 181 to 190 of about 55,000 (288)

A new perspective on drug‐resistant epilepsy in children with focal cortical dysplasia type 1: From challenge to favorable outcome

open access: yesEpilepsia, Volume 66, Issue 3, Page 632-647, March 2025.
Abstract Objective We comprehensively characterized a large pediatric cohort with focal cortical dysplasia (FCD) type 1 to expand the phenotypic spectrum and to identify predictors of postsurgical outcomes. Methods We included pediatric patients with histopathological diagnosis of isolated FCD type 1 and at least 1 year of postsurgical follow‐up.
Barbora Splitkova   +18 more
wiley   +1 more source

Neuronal oscillatory imbalances in GNAO1‐related disorders associated with disease severity

open access: yesEpilepsia, EarlyView.
Abstract Objective This study investigates excitatory/inhibitory (E/I) imbalances in GNAO1‐related disorders (GNAO1‐RD), linking neuronal dysfunction to clinical severity using E/I‐sensitive electroencephalography (EEG) analyses. Methods We conducted an observational study involving 12 children with GNAO1‐RD caused by pathogenic variants and 36 age ...
Tongyu Wang   +8 more
wiley   +1 more source

Resting-state fMRI in sleeping infants more closely resembles adult sleep than adult wakefulness [PDF]

open access: yes, 2017
Botteron, Kelly N   +6 more
core   +1 more source

Distinct spike‐and‐wave EEG profiles reveal susceptibility to fleeting/almost loss of consciousness (so‐called blips) in generalized epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective To characterize electroencephalographic (EEG) profiles of short spike‐and‐wave bursts (SWBs) in patients with idiopathic generalized epilepsy reporting sensations of fleeting/almost loss of consciousness, described as “a blip on the screen”—a phenomenon first termed “blips” by J.W. Lance.
Edgar Matringe   +6 more
wiley   +1 more source

Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice

open access: yesEpilepsia, EarlyView.
Abstract Familial adult myoclonus epilepsy (FAME) is a genetic neurological disorder characterized by cortical myoclonus and epileptic seizures with clinical features that overlap with other movement disorders and epileptic syndromes, particularly essential tremor (ET), progressive myoclonic epilepsy (PME), and juvenile myoclonic epilepsy (JME).
Yitao Lu   +14 more
wiley   +1 more source

Long‐read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms

open access: yesEpilepsia, EarlyView.
Abstract Objective Fibroblast growth factor 12 (FGF12), a member of the fibroblast homologous factor family, plays a key role in the modulation of voltage‐gated sodium (Nav) channels. Pathogenic variants in the FGF12 gene leading to a gain‐of‐function mechanism and partial duplication encompassing the FGF12 gene leading to a loss‐of‐function mechanism ...
Jade Fauqueux   +18 more
wiley   +1 more source

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