Results 31 to 40 of about 8,275 (187)

Video‐based diagnostics supported by artificial intelligence as an opportunity to address the epilepsy diagnostic gap: A narrative review

Epilepsia, EarlyView.
Abstract Despite advancements in epilepsy care, a substantial diagnostic gap persists, particularly in resource‐limited settings. This narrative review explores the potential of video‐based diagnostics augmented by artificial intelligence (AI) to address this gap by enabling earlier and more accessible seizure detection and classification.
Gadi Miron, Robert Terziev, Maximilian Schöls, John McLaren, Tobias Loddenkemper, Jörg Wellmer, Sigrid Mues, Christian Meisel   +7 more
wiley   +1 more source

Teaching NeuroImages: Leukodystrophy and progressive myoclonic epilepsy disclosing DRPLA

, 2016
A 25-year-old Brazilian man presented with an 8-year history of progressive myoclonic epilepsy. Familial history disclosed a Japanese paternal grandmother with late-onset parkinsonism-dementia and a paternal uncle with atypical parkinsonism.
Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP], Bulle Oliveira, Acary Souza [UNIFESP], de Rezende Batistella, Gabriel Novaes [UNIFESP], Sgobbi de Souza, Paulo Victor [UNIFESP]   +3 more
core   +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

Stiripentol: Unpublished results from the first phase 2 clinical trial in Lennox–Gastaut syndrome conducted in the early 1990s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

Ataxia and progressive myoclonic epilepsy associated with reduced ceramide synthase 1 (CERS1)

, 2015
Background: Ceramides and their sphingolipid have a wide range of biological functions. Ceramide synthase 1 (CERS1) catalyzes the synthesis of C18 ceramide and is mainly expressed in the brain.
Figueiredo, Marcelo Marinho de, Campos, M.L.S., G. Junior, C.O., Kok, F., Afonso, C.O.M., Camilo, A.F.C., Correia, Carlos Eduardo Rocha, Mendes, V.L., Campêlo, C.L.C.   +8 more
core   +1 more source

Soticlestat as an adjunctive therapy in children and young adults with Dravet syndrome

Epilepsia, EarlyView.
Overview of the phase 3 trial evaluating soticlestat as adjunctive therapy in children and young adults with Dravet syndrome. Abstract Objective This study evaluated the efficacy, safety, and tolerability of soticlestat as adjunctive therapy in children and young adults with Dravet syndrome (DS).
Joseph Sullivan, Kette Valente, Vicente Villanueva, Adam Strzelczyk, Rima Nabbout, Eiji Nakagawa, Yuehua Zhang, Marta Zolnowska, Yasir Khan, Cheng Dong, Samuel Hsiao, Sarah I. Sheikh, Philipp von Rosenstiel, Mahnaz Asgharnejad, Venkatesha Murthy   +14 more
wiley   +1 more source

Adult-onset autosomal dominant myoclonic epilepsy: Report of a family with an overlooked epileptic syndrome

, 2006
SummaryObjectiveMyoclonic epilepsy is a common epileptic syndrome with high genetic contribution. We described a pedigree in which 10 individuals presented with a non-progressive, adult-onset myoclonic epilepsy.Materials and methodsThe pedigree was ...
Hsin, Yue-Loong, Chen, Yen-Ho, Chuang, Min-Fei, Min-Fei Chuang, Shyu, Woei-Cherng, Harnod, Tomor, Chih-Yuan Lin, Yue-Loong Hsin, Lin, Chih-Yuan, Yen-Ho Chen, Woei-Cherng Shyu, Tomor Harnod   +11 more
core   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Mental health impacts experienced by caregivers of people with Dravet syndrome: A systematic literature review

Epilepsia, EarlyView.
Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk, Mary Anne Meskis, Galia Wilson, Bobby Jacob, Christoph Helmstaedter, Jane von Gaudecker, Veronica Hood, Ceri Hughes, Michael Scott Perry   +8 more
wiley   +1 more source

Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.

, 2021
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy.
Caliskan, Mine, Tatli, Burak, Aydinli, Nur, Ozmen, Meral, Bektas, Gonca, YEŞİL, GÖZDE, Yildiz, Edibe   +6 more
core   +1 more source