Results 121 to 130 of about 14,859 (310)

Incidence and phenotypes of childhood-onset genetic epilepsies:a prospective population-based national cohort [PDF]

, 2019
Epilepsy is common in early childhood. In this age group it is associated with high rates of therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number of genes, with wide ranging functions, are implicated in its aetiology,
Abdelnour, Ailsa McLellan, Alan Webb, Alice Jollands, Anagnostou, Anderson, Andreas Brunklaus, Angela Vincent, Appenzeller, Arsov, Barker, Baxter, Bayat, Bearden, Berg, Berg, Berg, Berkovic, Bethan Lang, Biervert, Boerma, Brunklaus, Brunklaus, Calum A Morrison, Capovilla, Caraballo, Ceulemans, Chiron, Christine Findlay, Coman, Coppola, Daniela T Pilz, de Lange, Devinsky, Devinsky, Devinsky, Devinsky, Di Giorgis, Ebrahimi-Fakhari, Elma Stephen, Eltze, Escayg, Fiest, French, Fukuoka, Gaily, Guerrini, Harkin, Hauser, Helbig, Heyne, Higurashi, Howell, Huang, Hully, Ishaq Abu-Arafeh, Jamie Andrew, Jamie Cruden, Jane MacDonnell, Jay Shetty, Jean McKnight, Johannesen, Joseph D Symonds, Kass, Kato, Kirsty Stewart, Krabbenborg, Kwan, Larsen, Lek, Lemke, Lesley Nairn, Liam Dorris, Lim, Lindy, Lotte, Louise A Diver, Margaret Wilson, Martin Kirkpatrick, Mary Callaghan, Mary O‘Regan, Meghan M Slean, Millichap, Milligan, Mullen, Mullen, Myers, Myers, Nellist, Ngugi, Olson, Palmer, Peng, Philip Brink, Pisano, Pong, Rosemary Grattan, Sameer M Zuberi, Sarah Gardiner, Sawyer, Scheffer, Shelagh Joss, Singh, Stewart MacLeod, Striano, Trump, Weckhuysen, Wilson, Wirrell, Wolff, Wu, Wynn, Zeng   +112 more
core   +4 more sources

Movement Disorders in Neuromyelitis Optica Spectrum Disorder: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Several movement disorders (MD) have been reported to occur in neuromyelitis optica spectrum disorder (NMOSD). No extensive review has addressed the whole spectrum of MD in NMOSD. Objective This article aims to review MD in NMOSD, describing its prevalence and features.
Luciana A.F. Bringel, Pedro L.G.S.B. Lima, Pedro V.F. Rodrigues, Francisco L.H.B. Cavalcante, Amanda R. Pinheiro, Fabricia M.S. Saraiva, Cynthia P. Rodrigues, Paulo V.S. Gonçalves, Leonardo J.R.A. Melo, Antônio E. Camelo‐Filho, Avelino M. Dutra‐Junior, Samuel R.O. Veras, Fernanda M.M. Carvalho, Flávia P.S. Rolim, Gabriela J. Martins, José A.C. D'Almeida, Pedro Braga‐Neto, Milena S. Pitombeira, Paulo R. Nobrega   +18 more
wiley   +1 more source

Prediction of Infantile Spasms Recurrence after ACTH Therapy

Pediatric Neurology Briefs, 2016
Investigators from Okayama University Hospital, Japan, studied the predictive value of serial EEG findings (every 2 to 4 weeks) in relapse of epileptic spasms after synthetic ACTH therapy in patients with West syndrome (WS).
J. Gordon Millichap, John J. Millichap
doaj   +1 more source

Vagus Nerve Stimulation in Refractory Epilepsy: Effects on Pro- and Anti-Inflammatory Cytokines in Peripheral Blood [PDF]

, 2010
Objective: The vagus nerve has important immunological functions that may be relevant for its anticonvulsive action. We postulate that this anticonvulsive action is activated by a shift in the immune system resulting in a reduction of neurotoxic and an ...
Berfelo, M. W., Hulsman, J. A. R. J., Majoie, H. J. M., Myint, A., Rijkers, K., Schwarz, M., Vles, J. S. H.   +6 more
core   +2 more sources

Managing Dystonia in Partington Syndrome

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.
Emilie Pichon, Aurea Alioth, Sabina Catalano Chiuvé, André Zacharia, Marta Ruiz‐Lopez, David P. Breen, Florence Zangas‐Gehri, Florent Draye, Aurore Curie, Duncan Wilson, Victor S.C. Fung, Stephen Duma, Joël Fluss, Julien F. Bally   +13 more
wiley   +1 more source

ACTH Therapy in Epileptic Spasms without Hypsarrhythmia

Pediatric Neurology Briefs, 2005
The short and long-term effects of adrenocorticotrophic hormone (ACTH) in 30 children ages 11 to 86 months (median 29 months) with epileptic spasms (ES) without hypsarrhythmia were analyzed at Tokyo Women’s Medical University, Japan.
J Gordon Millichap
doaj   +1 more source

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion [PDF]

, 2014
Background: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases.
An, Yu, Du, Xiaonan, Guo, Xiaohong, Jiang, Yong-hui, Liu, Renchao, Qin, Yanrong, Sun, Daokan, Wang, Yi, Wu, Bailin, Yu, Lifei, Zhou, Shuizhen   +10 more
core   +1 more source

Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants in PD.
Lara M. Lange, Zih‐Hua Fang, Laurel Screven, Ai Huey Tan, Roy N. Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L.I. Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin‐Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M. Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K. Wszolek, Lesley Wu, Ruey‐Meei Wu, Kirsten E. Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E. Mencacci, Huw R. Morris, Shen‐Yang Lim, Katja Lohmann, Christine Klein, the Global Parkinson's Genetics Program (GP2)   +37 more
wiley   +1 more source

The significance of focal pattern in hypsarrhythmia

Brain Disorders
Introduction: Infantile Epileptic Spasms Syndrome (IESS) presents a therapeutic challenge and is frequently associated with developmental delay. It is characterized by seizures and hypsarrhythmia on the EEG and has multiple etiologies that influence ...
Anna Wiedemann, Birgit Stark, Gudrun Gröppel   +2 more
doaj   +1 more source

P.052 Benign spasms of infancy - a mimicker of infantile epileptic disorders [PDF]

, 2019
Jamie Ghossein, Daniela Pohl
openalex   +1 more source