Results 51 to 60 of about 28,537 (282)

Causal hierarchy within the thalamo-cortical network in spike and wave discharges [PDF]

, 2009
Background: Generalised spike wave (GSW) discharges are the electroencephalographic (EEG) hallmark of absence seizures, clinically characterised by a transitory interruption of ongoing activities and impaired consciousness, occurring during states of ...
Lemieux, L., Vaudano, Anna E., Friston, KJ, Rodionov Roman, Carmichael, D., Thornton, R., Thornton, Rachel, Lemieux, Louis, VAUDANO, Anna Elisabetta, Maxime Guye, Vaudano, A., Vaudanao, A. E., Anna E Vaudano, Carmichael, David W., Hamandi, K., Carmichael David W., Kiebel, SJ, Carmichael, DW, Vaudano Anna E., Vaudano, AE, Guye, M, Hamandi, K, Thornton Rachel, Guye Maxime, Duncan, JS, de la Prida, Liset Menendez, Friston Karl J., Louis Lemieux, Stefan J Kiebel, Rachel Thornton, Rodionov, R, David W Carmichael, Khalid Hamandi, Friston, Karl J., Thornton, R, Duncan, John, Guye, M., Kiebel, Stefan J., Duncan, John S., Rodionov, Roman, Duncan, J., Duncan John S., Lemieux, L, Roman Rodionov, Hamandi Khalid, Kiebel, S., Hamandi, Khalid, Lemieux Louis, Friston, K., Rodionov, R., Laufs, H, Laufs, Helmut, Carmichael, D. W., Helmut Laufs, Laufs, H., John S Duncan, Laufs Helmut, Guye, Maxime, Karl J Friston, Kiebel Stefan J.   +59 more
core   +1 more source

Analysis of GABRG2 C588T polymorphism in genetic epilepsy and evaluation of GABRG2 in drug treatment

Clinical and Translational Science, 2021
Epilepsy is a common disorder with complex inheritance, and its treatment is very unsatisfactory. An association between the GABRG2 C588T polymorphism and genetic generalized epilepsy has been studied by several genetic association studies.
Shitao Wang, Xianjun Zhang, Liang Zhou, Qian Wu, Yanbing Han   +4 more
doaj   +1 more source

Whole Genome Sequence Data From Captive Baboons Implicate RBFOX1 in Epileptic Seizure Risk

Frontiers in Genetics, 2021
In this study, we investigate the genetic determinants that underlie epilepsy in a captive baboon pedigree and evaluate the potential suitability of this non-human primate model for understanding the genetic etiology of human epilepsy.
Mark Z. Kos, Melanie A. Carless, Melanie A. Carless, Lucy Blondell, M. Michelle Leland, Koyle D. Knape, Harald H. H. Göring, Charles Ákos Szabó, Charles Ákos Szabó   +8 more
doaj   +1 more source

Reflex Triggering Properties in Genetic Generalized and Focal Epilepsies by Questioning and Neuropsychological Electroencephalography Activation Methods

, 2021
Objectives: Epileptogenesis is still not clearly understood. Therefore, there is an inevitable need for research that investigates triggers for reflex seizures and neuropsychological activation (NPA) methods using electroencephalography (EEG) in ...
Nermin GÖRKEM ŞİRİN, Betül BAYKAN, Koksal, Ayhan, Nerses BEBEK, Bebek, Nerses, Ayhan KÖKSAL, Dilek ATAKLI, Atakli, Dilek, Ur Ozcelik, Emel, Emel UR ÖZÇELİK, Gorkem Sirin, Nermin, Baykan, Betül   +11 more
core   +1 more source

Are Generalized and Localization-Related Epilepsies Genetically Distinct? [PDF]

Archives of Neurology, 1998
Whether the genetic influences are distinct for generalized and localization-related epilepsies or whether some susceptibility genes raise the risk for both types of epilepsy is uncertain.To evaluate genetic heterogeneity in epilepsy.We used Cox proportional hazards analysis to compute rate ratios (RRs) for generalized and localization-related ...
R, Ottman, J H, Lee, W A, Hauser, N, Risch   +3 more
openaire   +2 more sources

CLINICAL AND GENETIC HETEROGENITY OF JUVENILE MYOCLONIC EPILEPSY

Эпилепсия и пароксизмальные состояния, 2016
The idiopathic generalized epilepsies constitute roughly one-third of all epilepsies. Juvenile myoclonic epilepsy (Janz syndrome) is characterized by myoclonic jerks on awakening, generalized tonic-clonic seizures, and typical absences, with the latter ...
N. A. Shnayder, O. S. Shilkina, K. V. Petrov, I. A. Chernykh, A. V. Diuzhakova   +4 more
doaj   +1 more source

Systematically disrupted functional gradient of the cortical connectome in generalized epilepsy: Initial discovery and independent sample replication

NeuroImage, 2021
Genetic generalized epilepsy is a network disorder typically involving distributed areas identified by classical neuroanatomy. However, the finer topological relationships in terms of continuous spatial arrangement between these systems are still ...
Yao Meng, Siqi Yang, Huafu Chen, Jiao Li, Qiang Xu, Qirui Zhang, Guangming Lu, Zhiqiang Zhang, Wei Liao   +8 more
doaj   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

, 2009
Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5–4 Hz spike-wave complexes on ictal EEG.
Sander, Thomas, Eeg-Olofsson, O, Everett, KV, Everett, Kate V., Friis, Mogens Laue, Dulac, Olivier, Siren, Auli, Dooley, Joseph M, Aschauer, H, Kjeldsen, MJ, Dulac, O, Wirrell, Elaine, Covanis, Athanasios, Brouwer, Oebele, Covanis, A, Sirén, A, Aicardi, Jean, Gardiner, RM, Durner, Martina, Robinson, R, Nabbout, Rima, Gardiner, R. Mark, McKeigue, Paul, Sander, T, Dooley, JM, Gardiner, R Mark, McKeigue, Paul; id_orcid, Chioza, BA, Aschauer, Harald, Everett, Kate V, Eeg-Olofsson, Orvar, Brouwer, O, Nabbout, R, McKeigue, P, Robinson, Robert, Chioza, Barry A., Dooley, Joseph M., Nashef, L, Feucht, Martha, Feucht, M, Guerrini, R, Aicardi, J, Durner, M, Nashef, Lina, Wirrell, E, Callenbach, P, Guerrini, Renzo, Callenbach, Petra, Chioza, Barry A, Friis, ML, Kjeldsen, Marianne Juel, Eeg-Olofsson, Orvar,   +51 more
core   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source