Results 31 to 40 of about 27,030 (251)

Unmasking of myoclonus by lacosamide in generalized epilepsy

Epilepsy and Behavior Case Reports, 2017
Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials.
Daniel Birnbaum, Mohamad Koubeissi
doaj   +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

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

Diagnostic utility of specific abnormal EEG patterns in children for determining epilepsy phenotype and presence of structural brain abnormalities

Heliyon, 2022
Objective: Estimate sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of EEG findings: centrotemporal spikes, photoparoxysmal response, asymmetric photic driving, and asymmetric sleep spindles, for epilepsy ...
Mohammed Ashour, Erica Minato, Abdulla Alawadhi, Saoussen Berrahmoune, Elisabeth Simard-Tremblay, Chantal Poulin, Kenneth A. Myers   +6 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

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

CONSANGUINEOUS MARRIAGE AS RISK FACTOR FOR IDIOPATHIC GENERALIZED EPILEPSY (IGE)

Pakistan Armed Forces Medical Journal, 2021
Objective: To determine the significance of parental consanguinity as a risk factor for idiopathic generalized epilepsies. Study Design: Case control study.
Shumaila Rafique, Tipu Sultan, Shabir Ahmed   +2 more
doaj   +4 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

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source