Results 41 to 50 of about 53,382 (296)

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

Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy. [PDF]

, 2019
Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child.
Gandini, Maria A, Lerner, Jason, Matsumoto, Joyce, Mitchell, Wendy G, Pierson, Tyler Mark, Souza, Ivana A, Zamponi, Gerald W, Zhang, Fang-Xiong   +7 more
core   +3 more sources

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

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

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

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

Network perspectives on epilepsy using EEG/MEG source connectivity [PDF]

, 2019
The evolution of EEG/MEG source connectivity is both, a promising, and controversial advance in the characterization of epileptic brain activity. In this narrative review we elucidate the potential of this technology to provide an intuitive view of the ...
Focke, Niels K., Höller, Yvonne, van Mierlo, Pieter, Vulliemoz, Serge   +3 more
core   +3 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

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
core   +2 more sources