Results 231 to 240 of about 351,102 (361)

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

Recurrent Transient Cortical Blindness After Bilateral Carotid Artery Stenting. [PDF]

JACC Case Rep
Karzoun A, Alkowatli H, Othman M, Ikbariah K, Subbiondo R.   +4 more
europepmc   +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

Improvement of <i>Mycoplasma pneumoniae</i>-Associated Acute Cerebellar Ataxia and Possible Encephalopathy After Intravenous Immunoglobulin. [PDF]

Case Rep Infect Dis
Ruff K, Douvoyiannis M.
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

Genetics of epilepsy. [PDF]

Exp Biol Med (Maywood)
Piacentini K, Gaitatzis A, Kõks S.
europepmc   +1 more source

Bovine spongiform encephalopathy.

, 1997
D Mallek
openalex   +1 more source

Glomus caroticus, environment, time parameters of cardiac and pathogenic mechanisms of formation of somatogenic depression and mixed encephalopathies on the methodological grounds of non-invasive hemogram analyzer

, 2013
Anatolii N. Malykhin, Nataliia N. Malykhina, Anatolii A. Pulavskyi   +2 more
openalex   +1 more source

Stiripentol: Unpublished results from the first phase 2 clinical trial in Lennox–Gastaut syndrome conducted in the early 1990s

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to present the results of an exploratory phase 2 trial of stiripentol in Lennox–Gastaut syndrome (LGS). Methods This exploratory single‐blind, single‐arm, nonrandomized sequential‐period phase 2 study was conducted at four centers in France between January 1989 and August 1993.
Stéphane Auvin, Benjamin Serraz, Jérémie Lespinasse, Laurent Chancharme   +3 more
wiley   +1 more source