Results 271 to 280 of about 883,556 (350)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Detection of structural DNA variants in medulloblastomas using optical genome mapping. [PDF]

Acta Neuropathol Commun
Kubon N, Bălan M, Koppstein D, Praeger S, Wolter M, Ebert P, Pauck D, Felsberg J, Beez T, Picard D, Remke M, Reifenberger G.   +11 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Prenatal arsenic exposure and gene expression in fetal liver, heart, lung, and placenta. [PDF]

Toxicology
Rychlik KA, Sanchez SS, Kashiwagi C, Liao JS, Mathur A, Illingworth EJ, Kleensang A, Maertens A, Sillé FCM.   +8 more
europepmc   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

A panel of serum-derived exosomal miRNAs as markers of cardiovascular risk assessed by carotid intima-media thickness in patients with type 2 diabetes. [PDF]

Am J Transl Res
Lu W, Yin L, Zou S, Wu M, Du X, Li H, Shi B.   +6 more
europepmc   +1 more source

MiR‐30a‐5p mediates epileptogenesis in epilepsy models by targeting SOX4 to regulate the Wnt/β‐catenin pathway

Epilepsia Open, EarlyView.
Abstract Objective The pathogenesis of epilepsy is closely associated with neuronal synaptic plasticity. MicroRNAs (miRNAs) can regulate various biological processes by binding to specific sequences on target genes. This study employs bioinformatics, molecular dynamics, and experimental approaches to investigate the mechanism by which MiR‐30a‐5p treats
Zhenlin Yang, Xu Zhang, Jingjing Guo, Yuanxin Wei, Jinzi Li   +4 more
wiley   +1 more source

Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report. [PDF]

Int Med Case Rep J
Moraes PC, Montalli VAM, Sperandio M, Dos Santos AM, Rosa ACG.   +4 more
europepmc   +1 more source

Systematic evaluation of long- and short-read RNA-seq for human peripheral blood. [PDF]

NAR Mol Med
Iwabuchi S, Nasti A, Okada H, Takeshita Y, Sato TA, Urabe T, Takamura T, Tamura T, Tajima A, Matsubara K, Kaneko S.   +10 more
europepmc   +1 more source

De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley   +1 more source