Results 51 to 60 of about 33,337 (262)

Psychiatric symptoms and comorbidities in patients with drug-resistant epilepsy in presurgical assessment—A prospective explorative single center study

Frontiers in Psychiatry, 2022
IntroductionPeople with epilepsy (PWE) have a higher prevalence of psychiatric disorders. Some individuals with drug-resistant epilepsy might benefit from surgical interventions.
Fabian Friedrich, Ekaterina Pataraia, Susanne Aull-Watschinger, Sonja Zehetmayer, Lisbeth Weitensfelder, Clara Watschinger, Nilufar Mossaheb   +6 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Association between Genetic Polymorphism of SCN1A, GABRA1 and ABCB1 and Drug Responsiveness in Vietnamese Epileptic Children

Medicina
Background and Objectives: Drug resistant epilepsy (DRE) is a major hurdle in epilepsy, which hinders clinical care, patients’ management and treatment outcomes.
Hai Xuan Tang, Muoi Dang Ho, Nhung Phuong Vu, Hung Vu Cao, Vinh Anh Ngo, Van Thi Nguyen, Thuan Duc Nguyen, Ton Dang Nguyen   +7 more
doaj   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Targeting the PDK1/c‐Myc/SOX10 Signaling in Oligodendrocytes Alleviates Neuropathic Pain

Advanced Science, EarlyView.
This work reveals that oligodendrocyte homeostasis, mediated by PDK1, is a critical determinant of neuropathic pain (NPP) pathogenesis. Disruption of PDK1 in oligodendrocytes impairs SOX10‐dependent myelination programs through c‐Myc accumulation, leading to disrupted myelination and the pathophysiology of NPP.
Pingping Qiao, Lifang Guo, Guochao Yang, Chaoli Huang, He Wang, Jian‐Jun Yang, Guiquan Chen, Yimin Hu   +7 more
wiley   +1 more source

Metabolomics As a Tool for the Characterization of Drug-Resistant Epilepsy [PDF]

Frontiers in Neurology, 2017
PURPOSE: Drug resistance is a critical issue in the treatment of epilepsy, contributing to clinical emergencies and increasing both serious social and economic burdens on the health system. The wide variety of potential drug combinations followed by often failed consecutive attempts to match drugs to an individual patient may mean that this treatment ...
Federica Murgia, Antonella Muroni, Monica Puligheddu, Lorenzo Polizzi, Luigi Barberini, Gianni Orofino, Paolo Solla, Simone Poddighe, Simone Poddighe, Francesco Del Carratore, Francesco Del Carratore, Julian L. Griffin, Luigi Atzori, Francesco Marrosu   +13 more
openaire   +6 more sources

Enhanced Glycolysis‐Driven Histone H3K18 Lactylation Regulates Epileptogenesis by Modulating the E3 Ubiquitin Ligase COP1

Advanced Science, EarlyView.
Neuronal PKM2‐driven glycolysis generates excess lactate that triggers histone H3K18 lactylation (H3K18la), establishing a pathogenic metabolic‐epigenetic axis in epilepsy. Elevated H3K18la enriches the Cop1 promoter, transcriptionally upregulating the E3 ubiquitin ligase COP1, which subsequently drives proteasomal degradation of GABAARβ2 and impairs ...
Yuan Meng, Yanlin Guo, Liumi Jiang, Jing Luo, Yan Liu, Ziwei Yuan, Pingyang Ke, Ran Duan, Fei Xiao   +8 more
wiley   +1 more source

Alterations of apparent diffusion coefficient from ultra high b‐values in the bilateral thalamus and striatum in MRI‐negative drug‐resistant epilepsy

Epilepsia Open
Objective Subcortical nuclei such as the thalamus and striatum have been shown to be related to seizure modulation and termination, especially in drug‐resistant epilepsy.
Guixian Tang, Hailing Zhou, Chunyuan Zeng, Yuanfang Jiang, Ying Li, Lu Hou, Kai Liao, Zhiqiang Tan, Huanhua Wu, Yongjin Tang, Yong Cheng, Xueying Ling, Qiang Guo, Hao Xu   +13 more
doaj   +1 more source

Deep brain stimulation in drug-resistant epilepsy: current status and future perspectives

Chinese Journal of Contemporary Neurology and Neurosurgery
Drug-resistant epilepsy remains a major challenge in management of epilepsy, with approximately half of patients being unsuitable candidates for resective surgery.
HU Tian-qi, XIE Hu-tao, ZHANG Jian-guo
doaj   +1 more source