Results 51 to 60 of about 4,320,858 (290)

Quantification of Hypsarrhythmia in Infantile Spasmatic EEG: A Large Cohort Study

IEEE Transactions on Neural Systems and Rehabilitation Engineering
Infantile spasms (IS) is a neurological disorder causing mental and/or developmental retardation in many infants. Hypsarrhythmia is a typical symptom in the electroencephalography (EEG) signals with IS.
Ruolin Hou, Qiongru Guo, Qinman Wu, Zihao Zhao, Xindan Hu, Yumei Yan, Wenyuan He, Peize Lyu, Ruisheng Su, Tao Tan, Xiaoqiang Wang, Yuanning Li, Dake He, Lin Xu   +13 more
doaj   +1 more source

Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive.

Epileptic disorders, 2018
Mutation of the gene encoding ubiquitin-like modifier-activating enzyme 5 (UBA5) causes autosomal recessive early-onset epileptic encephalopathy. UBA5 acts as an E1-activating enzyme in the ubiquitin-fold modifier 1 pathway, which is important for ...
A. Daida, S. Hamano, S. Ikemoto, Ryuki Matsuura, M. Nakashima, N. Matsumoto, Mitsuhiro Kato   +6 more
semanticscholar   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Epidemiological associations between brachycephaly and upper respiratory tract disorders in dogs attending veterinary practices in England [PDF]

, 2015
Background: Brachycephalic dog breeds are increasingly common. Canine brachycephaly has been associated with upper respiratory tract (URT) disorders but reliable prevalence data remain lacking.
AG Drake, AJ German, AK Hussein, Anon, BR Kirkwood, C Rusbridge, CD Knecht, CV Torrez, D Alderton, D Aron, D Bannasch, D Georgevsky, D Lorenzi De, DA Koch, DG O’Neill, DG O’Neill, DG O’Neill, DN Irion, EM Lund, F Bernaerts, FJ Fasanella, FS Roedler, HG Parker, I Dohoo, J Clutton-Brock, J Sampson, JJ Schoenebeck, JJ Schoenebeck, K Lindblad-Toh, L Asher, LM Collins, MJ Schmidt, MW Neff, NJ Beausoleil, P Bateson, PD McGreevy, RMA Packer, S Fonfara, S Isono, T Emmerson   +39 more
core   +2 more sources

Electroclinical Features of Infantile Epileptic Spasms Syndrome

Annals of Indian Academy of Neurology
Epileptic spasms are a unique, age-dependent manifestation of epilepsies in infancy and early childhood, commonly occurring as part of infantile epileptic spasms syndrome.
Gozde Erdemir, Ahsan N. Moosa
doaj   +1 more source

Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]

, 2010
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Amir, Archer, Ariani, Artuso, Bahi-Buisson, Carney, Christen, Einspieler, Goutieres, Hagberg, Hagberg, Hagberg, Hagberg, Hanefeld, Huppke, Kankirawatana, Leonard, Neul, Percy, Renieri, Rett, Rolando, Wan, Watson, Zappella   +24 more
core   +1 more source

The need of an epidemio-surveillance network to prevent Huanglongbing arrival in the South of the Mediterranean Basin [PDF]

, 2011
HuangLongBing (HLB) originated in the 1900's in Asia where it is transmitted by the psyllid Diaphorina citri. In South Africa another form of HLB, transmitted by Trioza erytreae was described in the 1960's.
Aubert, Bernard, Dollet, Michel, Gatineau, Frédéric, Imbert, Eric   +3 more
core  

Association Between Scalp High-Frequency Oscillations and Burden of Amplitudes and Epileptiform Discharges (BASED) Scores in Infantile Epileptic Spasms Syndrome

Biomolecules
Tools for measuring the likelihood of relapse in infantile epileptic spasms syndrome (IESS) treatment could aid clinicians in making critical management decisions.
Keisuke Maeda, Himari Tsuboi, Nami Hosoda, Junichi Fukumoto, Shiho Fujita, Shunta Yamaguchi, Naohiro Ichino, Keisuke Osakabe, Keiko Sugimoto, Gen Furukawa, Naoko Ishihara   +10 more
doaj   +1 more source

DMD and West syndrome

Neuromuscular Disorders, 2017
Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy.
Cardas, R, Iliescu, C, Butoianu, N, Seferian, A, Gataullina, S, Gargaun, E, Nectoux, J, Bienvenu, T, Craiu, D, Gidaro, T, Servais, L   +10 more
openaire   +4 more sources

The spectrum and efficacy of antiepileptic drugs in patients with infantile spasms in Russia

Эпилепсия и пароксизмальные состояния, 2018
Recently, the International League Against Epilepsy (ILAE) defined epileptic spasms as a separate type of seizures. According to the international recommendations, the treatment of infantile  spasms (IS) begins with hormones or vigabatrin (in the cases ...
T. G. Okhapkina, I. V. Shuljakova, E. S. Ilina, G. V. Kalmykova, M. V. Prytkina, E. D. Belousova   +5 more
doaj   +1 more source