Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon +9 more
wiley +1 more source
WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara +7 more
wiley +1 more source
Absence seizures: Update on signaling mechanisms and networks
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley +1 more source
The multiple hit model of infantile and epileptic spasms: The 2025 update
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou +6 more
wiley +1 more source
Preclinical evaluation of the third-generation, bi-steric mechanistic target of rapamycin complex 1-selective inhibitor RMC-6272 in NF2-deficient models. [PDF]
Bhattacharyya S +7 more
europepmc +1 more source
Chronic sleep deprivation promotes drug‐resistant epilepsy via the BMAL1‐mTOR‐P‐gp axis
Abstract Objective The interplay between chronic sleep deprivation and drug‐resistant epilepsy (DRE) has gained increasing attention. Brain and muscle Arnt‐like protein 1 (BMAL1), which is implicated in sleep disturbance, has an unclear role in DRE. We aimed to investigate the role of BMAL1 in sleep deprivation‐induced DRE. Methods A pentylenetetrazole
Xiaomeng Wang +7 more
wiley +1 more source
A New Vista of Opportunity in Diabetes Management: Natural Product‐Based β‐cell Preservation
Preserving functional β‐cells via natural products offers promising strategy for diabetes treatment. ABSTRACT A defining characteristic of diabetes is β‐cell failure, in which β‐cells cannot modulate insulin secretion to compensate for escalating insulin resistance, pushing forward disease development.
Yi‐San Lee +4 more
wiley +1 more source
Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley +1 more source
Epigenetic Regulation in the Pathogenesis of Renal Inflammation: Insights and Therapeutic Potentials
ABSTRACT Renal inflammation is a common pathological process in various kidney diseases, often initiated by factors such as toxins, ischemia, or autoimmune reactions. This inflammatory response can result in structural damage and a rapid decline in renal function.
Yu‐Hang Dong +5 more
wiley +1 more source

