Results 131 to 140 of about 145,959 (288)
Role of SoxE transcription factors in development and disease
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley +1 more source
Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model
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
Abstract Objective Epilepsy surgery in people with focal cortical dysplasia (FCD) requires accurate removal of all epileptogenic tissue, and outcome is difficult to predict. We explored whether spectral entropy, a fast computable electroencephalographic (EEG) feature, could estimate epileptic activity in intraoperative electrocorticography (ioECoG) and
Eline V. Schaft +53 more
wiley +1 more source
Abstract High‐frequency oscillations (HFOs) were discovered more than 20 years ago, and since then they have been studied intensively in the context of epilepsy. HFOs encompass a broad spectrum of oscillations, typically ranging from 80 Hz to several kHz, that include both normal and pathological oscillations, documented in people with epilepsy and ...
Christos Panagiotis Lisgaras +6 more
wiley +1 more source
IntroductionEnhancer of zeste homolog 2 (Ezh2) is responsible for trimethylation of histone 3 at lysine 27 (H3K27me3), resulting in repression of gene expression.
Christopher T. Rhodes +13 more
doaj +1 more source
Abstract Objective Long‐term memory deficits are often seen in patients with temporal lobe epilepsy (TLE). Recently, studies showed that patients with hippocampal sclerosis (HS) type 2, which presents with severe neuron loss in CA1 only, performed within the normal range. However, up to 30% of HS type 2 cases have memory deficits.
Henrique Cruz +10 more
wiley +1 more source
Abstract Objective Drug‐resistant epilepsy (DRE) affects approximately one‐third of patients with epilepsy. The molecular heterogeneity underlying DRE remains poorly defined, largely due to limited access to resected brain tissue and substantial genetic diversity.
Yanping Weng +11 more
wiley +1 more source
Long‐lasting remodeling of astrocytes in an Scna1+/− mouse model of Dravet syndrome
Abstract Objective Dravet syndrome (DS) is a prototypical developmental and epileptic encephalopathy caused by mutations in the SCN1A gene, leading to loss of function of the voltage‐gated sodium channel Naᵥ1.1. The latter causes early onset drug‐resistant seizures and enduring cognitive and behavioral deficits.
Athénaïs Genin +10 more
wiley +1 more source
Abstract Objective Malformations of cortical development (MCDs) are a frequent cause of drug‐resistant epilepsy and a common indication for resective epilepsy surgery. As magnetic resonance imaging (MRI) lacks sensitivity for subtle MCDs, supplemental diagnostic tools are needed.
Lubna Shakhatreh +10 more
wiley +1 more source

