Results 171 to 180 of about 216,601 (314)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Contemporary management of pain in cirrhosis: Toward precision therapy for pain

Hepatology, EarlyView., 2022
Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman, Neehar Parikh, Dan J. Clauw, David A. Williams, Elliot B. Tapper   +4 more
wiley   +1 more source

Metronidazole-Induced Encephalopathy in a Patient With Metastatic Cancer. [PDF]

Cureus
Sethi AK, O'Connor E, Upadhyay K, Valent K, Darapaneni R, Busch N, Marshall K, Arachchi DS, Roychowdhury C.   +8 more
europepmc   +1 more source

Abstract No. 627 Proton pump inhibitors are associated with increased risk of hepatic encephalopathy after transjugular intrahepatic portosystemic shunt creation [PDF]

, 2018
Deborah Lewis, Paul V. Suhocki, Matthew J. Hall, T.P. Smith, Cho Hee Kim, James Ronald   +5 more
openalex   +1 more source

Bidirectional sleep‐seizure interactions and orexin in a mouse model of tuberous sclerosis complex‐related epilepsy

Epilepsia, EarlyView.
Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing, Lirong Han, Dongjun Guo, Thomas J. Foutz, Michael Wong   +4 more
wiley   +1 more source

Single-cell transcriptomics reveal heat shock protein dysregulation in severe SARS-CoV-2-associated pediatric encephalopathy. [PDF]

Sci Rep
Suzuki T, Sato Y, Suzuki M, Fukuda Y, Iwata KI, Yamaguchi M, Kawamura Y, Yoshikawa T, Kimura H, Kawada JI, Torii Y.   +10 more
europepmc   +1 more source

Evolution of the European Medicines Agency clinical guidelines for epilepsy drug development between 2010 and 2025: A comparative analysis by the ILAE Task Force on Regulatory Affairs

Epilepsia, EarlyView.
Abstract Objective The latest European Medicines Agency (EMA) guideline on the clinical investigation of medicines to treat epileptic disorders was adopted by the EMA Committee for Medicinal Products for Human Use in 2025. We compared this guideline with the previous version (2010), highlighting areas where significant revisions were introduced ...
Stéphane Auvin, Alexis Arzimanoglou, Jacqueline French, Kelly G. Knupp, Lieven Lagae, Eugen Trinka, Dennis Dlugos, Emilio Perucca   +7 more
wiley   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Treating Acute Toxo-Metabolic Encephalopathy With Continuous Renal Replacement Therapy: A Case Report of Ifosfamide Neurotoxicity. [PDF]

Cureus
Khan BSA, Din Bashir S.
europepmc   +1 more source

Author response: Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy

Timothy J Abreo, Emma C. Thompson, Anuraag Madabushi, Kristen Park, Heun Soh, Nissi Varghese, Carlos G. Vanoye, Kristen Springer, Jim Johnson, Scotty Sims, Zhigang Ji, Ana G. Chavez, Miranda J. Jankovic, Bereket Habte, Aamir Zuberi, Cathleen Lutz, Zhao Wang, Vaishnav Krishnan, L Dudler, Stephanie Einsele‐Scholz, Jeffrey L. Noebels, Alfred L. George, Atul Maheshwari, Anastasios V. Tzingounis, Edward C. Cooper   +24 more
openalex   +1 more source