Results 131 to 140 of about 13,168 (270)

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser   +5 more
wiley   +1 more source

Effects of Metabolic Dysfunction–Associated Steatohepatitis in Alertness, Associative Learning, and Astrocyte Density

open access: yesBrain and Behavior
Purpose Metabolic dysfunction–associated steatohepatitis (MASH) is a prevalent disease caused by high fat and high cholesterol intake, which leads to systemic deterioration. The aim of this research is to conduct a psychobiological exploration of MASH in
Sara G. Higarza   +4 more
doaj   +1 more source

Simulation data for "Deciphering the Molecular Mechanisms of Startle Disease: the Role of the Asn46Lys Mutation in the Glycine Receptor"

open access: yes
The glycine receptor (GlyR) is a pentameric ligand-gated ion channel that plays important physiological roles in the nervous system. Its malfunction is related to neurological disorders including startle disease (hyperekplexia), which is characterized by
London Centre for Nanotechnology   +5 more
core   +1 more source

Video‐based diagnostics supported by artificial intelligence as an opportunity to address the epilepsy diagnostic gap: A narrative review

open access: yesEpilepsia, EarlyView.
Abstract Despite advancements in epilepsy care, a substantial diagnostic gap persists, particularly in resource‐limited settings. This narrative review explores the potential of video‐based diagnostics augmented by artificial intelligence (AI) to address this gap by enabling earlier and more accessible seizure detection and classification.
Gadi Miron   +7 more
wiley   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

open access: yesEpilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli   +43 more
wiley   +1 more source

Acoustic Startle Response in High and Low Hostiles Before And After A Cold Pressor Task

open access: yes, 2011
High-hostiles exhibit exaggerated physiological responses to stressors as seen by increased cardiovascular reactivity (BP & HR) (Rhodes, Harrison, & Demaree, 2002; Demaree & Harrison, 1997).
Klineburger, Philip C.
core  

Targeted senotherapy improves electrographic and behavioral outcomes in a mouse model of temporal lobe epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Current pharmacotherapy for temporal lobe epilepsy (TLE) is limited to symptomatic treatment and leaves approximately one third of patients with inadequate seizure control. Discovering disease‐modifying targets is an unmet clinical need. We have previously identified senescent cells (SCs) as one such target. Many drugs that eliminate
David J. McFall   +3 more
wiley   +1 more source

Timing is everything: The effect of early‐life seizures on developing neuronal circuits subserving spatial memory

open access: yesEpilepsia Open, EarlyView.
Abstract Spatial memory, the aspect of memory involving encoding and retrieval of information regarding one's environment and spatial orientation, is a complex biological function incorporating multiple neuronal networks. Hippocampus‐dependent spatial memory is not innate and emerges during development in both humans and rodents.
Gregory L. Holmes
wiley   +1 more source

Epilepsy syndromes classification

open access: yesEpilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell   +4 more
wiley   +1 more source

Real world testing and cost‐effectiveness analysis of subcutaneous EEG (REAL‐ASE): Protocol for a prospective multicentre interventional trial

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Epilepsy is a common condition associated with significant morbidity, mortality, and costs. Poor documentation of seizures is a major challenge in epilepsy care. Objective seizure counting with mobile devices may mitigate this challenge and improve patient management.
Matthew McWilliam   +8 more
wiley   +1 more source

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