Results 131 to 140 of about 8,305 (182)

Weaning from ketogenic diet therapy in children with epilepsy: Insights from a retrospective study

open access: yesEpilepsia, Volume 67, Issue 4, Page 1817-1826, April 2026.
Abstract Objective This study was undertaken to describe weaning practices following ketogenic diet therapy (KDT) in children with epilepsy and to identify clinical factors associated with seizure exacerbation or antiseizure medication adjustments during or after weaning from KDT.
Noémie Donnard   +10 more
wiley   +1 more source

Syndrome‐specific and familial imaging traits in juvenile absence epilepsy

open access: yesEpilepsia, Volume 67, Issue 4, Page 1887-1900, April 2026.
Abstract Objective Juvenile absence epilepsy (JAE) is an idiopathic generalized epilepsy characterized by absences, generalized tonic–clonic seizures, and cognitive difficulties. In contrast to juvenile myoclonic epilepsy (JME), where distinct functional and structural brain alterations are well established, it remains unclear whether comparable ...
Fenglai Xiao   +15 more
wiley   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

open access: yesEpilepsia, Volume 67, Issue 4, Page 1945-1960, April 2026.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz   +73 more
wiley   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

open access: yesEpilepsia Open, Volume 11, Issue 2, Page 643-651, April 2026.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad   +10 more
wiley   +1 more source

Single‐Cell and Spatial Omics: Methods and Applications

open access: yesMedComm, Volume 7, Issue 4, April 2026.
Systematically summarized the breakthrough sequencing technologies and computational methods for single‐cell and spatial omics across multiple omics layers, including genome, epigenome, transcriptome, proteome, and metabolome. State‐of‐the‐art methods for multi‐omics integration, cross‐modal integration, and cross‐scale integration were reviewed, with ...
Xiaoping Cen   +10 more
wiley   +1 more source

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