Results 41 to 50 of about 2,837 (201)

Role of levetiracetam in refractory seizures due to a rare progressive myoclonic epilepsy: Lafora body disease

, 2010
Lafora disease is one of the rare, most fatal progressive myoclonic epilepsies reported. We present a case of a teenager with intractable seizures and progressive mental decline, diagnosed as Lafora body disease on axillary skin biopsy.
Ehtesham, Zeeshan, M. S. Mustafa, Mustafa, Muhammad Shahid, Sheerani, Mughis, M. Hashmi, Z. Ehtesham, Hashmi, Mubashira, Siddiqui, Khurram, F. Saleem, K. Siddiqui, Saleem, Feroza, M. Sheerani   +11 more
core   +1 more source

Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses

Frontiers in Cellular Neuroscience
Glucose is the brain’s main fuel source, used in both energy and molecular production. Impaired glucose metabolism is associated with adult and pediatric neurodegenerative diseases such as Alzheimer’s disease (AD), Parkinson’s disease (PD), GLUT1 ...
Lorenzo Santucci, Sara Bernardi, Sara Bernardi, Rachele Vivarelli, Filippo Maria Santorelli, Maria Marchese   +5 more
doaj   +1 more source

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

Recent developments in the quest for myoclonic epilepsy genes

, 2003
Summary: Understanding the latest advances in the molecular genetics of the epilepsies is important, as it provides a basis for comprehending the new practice of epileptology.
Rubio-Donnadieu, Francisco, Yamakawa, Kazuhiro, Delgado-Escueta, Antonio V., Morita, Ryoji, Bailey, Julia, Suzuki, Toshimitsu, Jara-Prado, A., Alonso, Maria Elisa, Perez-Gosiengfiao, Katerina B., Sugimoto, Toshihisa, Bai, Dongsheng, Medina, Marco T., Cordova, Sergio, Ramos-Peek, J., Ganesh, Subramaniam, Ochoa, Adriana, Rasmussen, Astrid   +16 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

Late-onset myoclonic epilepsy in Down’s syndrome (LOMEDS)

, 2001
The aim of this paper is to report a patient with late-onset myoclonic epilepsy in Down’s syndrome (LOMEDS) as a differential diagnosis of adult-onset progressive myoclonic epilepsies.
Rosenow, F., Oertel, W.H., Hamer, H.M., Möller, J.C.   +3 more
core   +1 more source

IRF2BPL: A new genotype for progressive myoclonus epilepsies

, 2023
The progressive myoclonus epilepsies (PMEs) are a heterogeneous group of neurodegenerative disorders, typically presenting in late childhood. An etiologic diagnosis is achieved in about 80% of patients with PME, and genome-wide molecular studies on ...
Calvello, C, Prontera, P, Costa, C, Colavito, D, Tonelli, L, Berkovic, SF, Cameron, JM, Imperatore, V, Canafoglia, L, Oliver, KL, Franceschetti, S   +10 more
core   +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

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

Diagnostic reassessment in patients previously diagnosed with childhood-onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center. [PDF]

Epilepsia Open
Abstract Objective To investigate the frequency, predictors, and clinical implications of diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition period to adult care at a tertiary epilepsy center. Methods We conducted a retrospective cohort study of 317 patients previously diagnosed with childhood ...
Fukuyama T, Nasuno M, Yabe M, Nishioka M, Hoshino Y, Natsume T, Kanaya K, Takano K, Kaneko T, Inoue Y.   +9 more
europepmc   +2 more sources