Results 211 to 220 of about 447,569 (400)

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

open access: yesEpilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov   +10 more
wiley   +1 more source

Timing is everything: Expert opinion on researching epilepsy rhythms by the ILAE Task Force on Chronobiology

open access: yesEpilepsia, EarlyView.
Abstract Recurrent seizures, the hallmark of epilepsy, are influenced by rhythms operating over multiple timescales. Chronobiology is the study of biological timing that aims to explain temporal patterns of events like seizures. Fueled by recent advances in genetics, computational modeling, and device engineering, the chronobiology of epilepsy is now a
Maxime O. Baud   +4 more
wiley   +1 more source

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

open access: yesEpilepsia, EarlyView.
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

L‐Relationship between uncertainty and average seizure frequency in clinical trials of antiseizure medications

open access: yesEpilepsia, EarlyView.
Abstract Objective Antiseizure medications are approved based on clinical trials that demonstrate their efficacy as measured by reductions in seizure frequency (SF). When designing these trials, trialists must select inclusion criteria where SF can be reliably measured to maintain statistical power.
Wesley T. Kerr   +6 more
wiley   +1 more source

Clinical phenotype, gene mutation and application of targeted next generation sequencing in patients with early-onset epileptic encephalopathy

open access: green, 2018
Xiao-jun LIU   +8 more
openalex   +2 more sources

Hepatic encephalopathy [PDF]

open access: yesAnnals of Clinical Biochemistry: International Journal of Laboratory Medicine, 2017
openaire   +2 more sources

Takotsubo cardiomyopathy during armed conflict: A case series

open access: yes
ESC Heart Failure, Volume 12, Issue 2, Page 1494-1498, April 2025.
Sharon Bruoha   +13 more
wiley   +1 more source

Memantine treatment in individuals with GRIN gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency

open access: yesEpilepsia, EarlyView.
Abstract Objective GRIN‐related disorders due to pathogenic variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D genes are associated with altered N‐methyl‐D‐aspartate receptor (NMDAR) function. Functional changes include gain (GoF) and loss of receptor function (LoF). Clinical reports describing the use of the NMDAR blocker memantine in GRIN‐related disorders
Maike Karnstedt   +17 more
wiley   +1 more source

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