Results 91 to 100 of about 9,861 (247)

Significance of High-frequency Electrical Brain Activity [PDF]

, 2017
　Electroencephalogram (EEG) data include broadband electrical brain activity ranging from infra-slow bands (200 / 250 Hz, respectively) are particularly of note due to their very close relationship to epileptogenicity, with the possibility that they ...
Agari, Takashi, Akiyama, Mari, Akiyama, Tomoyuki, Date, Isao, Endoh, Fumika, Hanaoka, Yoshiyuki, Kobayashi, Katsuhiro, Oka, Makio, Sasaki, Tatsuya, Shibata, Takashi   +9 more
core   +1 more source

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic Infantile Epileptic Encephalopathy [PDF]

, 2015
published_or_final_versio
Fung, CW, Ho, CCA, Kwong, AKY, Wong, VCN
core   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Current trends in the treatment of infantile spasms

Neuropsychiatric Disease and Treatment, 2009
Chang-Yong TsaoClinical Pediatrics and Neurology, The Ohio State University, College of Medicine, Columbus, Ohio, USAAbstract: Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic ...
Chang-Yong Tsao
doaj  

Electrographic screening for infantile epileptic spasms syndrome in a single sleep-wake cycle. [PDF]

Epilepsia
Abstract Objective Infantile epileptic spasms syndrome (IESS) is a common and urgent diagnosis with seizure and nonseizure mimics. Evaluation with prolonged video–electroencephalography (EEG) can be time‐consuming and costly.
Mason JA, Juarez-Colunga E, Knupp KG.
europepmc   +3 more sources

Inroads into epilepsy through high‐frequency oscillations: Achievements and benchmark areas for improvement

Epilepsia, EarlyView.
Abstract High‐frequency oscillations (HFOs) were discovered more than 20 years ago, and since then they have been studied intensively in the context of epilepsy. HFOs encompass a broad spectrum of oscillations, typically ranging from 80 Hz to several kHz, that include both normal and pathological oscillations, documented in people with epilepsy and ...
Christos Panagiotis Lisgaras, Birgit Frauscher, Jean Gotman, Julia Jacobs, Philippe Kahane, Richard J. Staba, Maeike Zijlmans   +6 more
wiley   +1 more source

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes [PDF]

, 2017
Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the ...
Barba, C, Bianchini, C, Bigoni, S, Cellini, E, Chiti, L, Clinical Study Group, De Vita, D, Galuppi, A, Guerrini, R, MANGANO, Salvatore, Mari, F, Marini, C, Mei, D, Montomoli, M, Parrini, E, Pisano, T, Pucatti, D, Rosati, A, Rutigliano, D, Virdò, S   +19 more
core   +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

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy [PDF]

, 2016
Background Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy.
A Escayg, A Ingason, A Ramalingam, A Suls, A Zangaladze, AA Kashevarova, Andrew E. Fry, Angus Clarke, B Lang, BC Lim, C Depienne, Catharine White, CB Catarino, CG Vanoye, Cheney Drew, Clare Taylor, D Carranza Rojo, D Pinto, Daniela T. Pilz, DT Miller, E Daalen van, E Matthews, E Rees, EL Heinzen, Elliott Rees, EM Reinthaler, Emma McCann, Frances Gibbon, G Kirov, Gareth Thomas, George Kirov, GJ Noh, Glyn Jones, GM Cooper, H Meng, H Saitsu, Hayley Archer, HC Mefford, HC Mefford, HC Mefford, HE Yu, Hood Mugalaasi, IA Adzhubei, J Sebat, Jaya Natarajan, JC Hodge, JL Groen, Johann Te Water Naude, K Wang, Kiran Mantripragada, KS Pollard, L Claes, L Weehi Te, LA Harkin, LA Weiss, Louise Hartley, M Bartnik, M Kircher, M Mantegazza, M Shinawi, MA Gillentine, Mark I. Rees, ME Talkowski, Michael J. Owen, Michael P. Kerr, MK Rudd, NA Singh, P Kumar, P Striano, Penny Blake, Peter Holmans, R Grantham, R Ullmann, Rhys H. Thomas, Rose Thompson, S Girirajan, SA Mullen, Sally Davies, SE Heron, Seo-Kyung Chung, Sian Jose, Sian Morgan, SR Williams, T Kleefstra, T Kleefstra, T Kleefstra, VM Kalscheuer, Wellcome Trust Case Control Consortium, X Shi, Y Chen   +89 more
core   +2 more sources

Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications

BMC Neurology, 2018
Background Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is an extremely rare disease caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23.
Chien-Heng Lin, Wei-De Lin, I-Ching Chou, Inn-Chi Lee, Hueng-Chuen Fan, Syuan-Yu Hong   +5 more
doaj   +1 more source