Results 141 to 150 of about 144,032 (247)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Antisense oligonucleotides-mediated rescue of the <i>AMELX</i> splicing defects. [PDF]

J Dent Sci
Cho ES, Kim YJ, Seymen F, Koruyucu M, Hu JC, Simmer JP, Kim JW.   +6 more
europepmc   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy. [PDF]

Nat Med
Kim-McManus O, Mignon L, Douville J, Pu H, Parisien C, Glass S, Bennett CF, Celso J, Robbins K, Ung H, Olson H, Kingsmore SF, Petrou S, Crooke ST, Gleeson JG, Berry-Kravis E.   +15 more
europepmc   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Safety and toxicity assessment of antisense oligonucleotides in brain-relevant human cellular models. [PDF]

Mol Ther Nucleic Acids
Colar Zanjko L, Andrés-Santamaria R, Balogh A, van Roon-Mom WMC, Dinnyés A.   +4 more
europepmc   +1 more source

To scramble or not: Steric blocking 2'-MOE/PS control antisense oligonucleotides across cellular models. [PDF]

Mol Ther Nucleic Acids
De Bruycker E, Bouckaert M, Van Acker K, Delanote E, Meuris L, González-Cid Á, Lenaerts H, Denolf L, Remaut K, Staes A, Gevaert K, Lefever S, Coppieters F.   +12 more
europepmc   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Precision therapeutics for early onset epilepsy: Allele-selective antisense oligonucleotides for SCN2A-related epilepsy. [PDF]

Mol Ther Nucleic Acids
Kim-McManus O.
europepmc   +1 more source

Targeting Renal IGFBP7 With Tetrahedral Framework Nucleic Acid‐Delivered siRNA Alleviates Acute Kidney Injury

iNew Medicine, EarlyView.
A tFNA‐based siRNA delivery system targeting IGFBP7 effectively silences IGFBP7 expression and attenuates renal dysfunction, tubular injury, and cell death in both septic (CLP) and ischemic (I/R) murine models of acute kidney injury. ABSTRACT Objective Acute kidney injury (AKI) is a common and serious clinical condition, yet effective targeted ...
Shao‐qi Wu, Ying‐ying Gao, Meng‐yi Jia, Yu‐Hao Liu, Qian Zhou, Dong Liu, Yu Ren, Yu‐jie Liu, Feng‐he Li, Ya‐ru Yang, Jie Wang, Jia‐gen Wen   +11 more
wiley   +1 more source