[HTML][HTML] Genetic landscape of common epilepsies: advancing towards precision in treatment

S Thakran, D Guin, P Singh, P Singh, S Kukal… - International journal of …, 2020 - mdpi.com
Epilepsy, a neurological disease characterized by recurrent seizures, is highly
heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types …

ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions

E Hirsch, J French, IE Scheffer, A Bogacz, T Alsaadi… - …, 2022 - Wiley Online Library
Abstract In 2017, the International League Against Epilepsy (ILAE) Classification of
Epilepsies described the “genetic generalized epilepsies”(GGEs), which contained the …

Targeting metabotropic glutamate receptors in the treatment of epilepsy: rationale and current status

R Celli, I Santolini, G Van Luijtelaar… - Expert opinion on …, 2019 - Taylor & Francis
Introduction: Several drugs targeting the GABAergic system are used in the treatment of
epilepsy, but only one drug targeting glutamate receptors is on the market. This is surprising …

[HTML][HTML] SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

D Roshandel, EJ Sanders, A Shakeshaft… - npj Genomic …, 2023 - nature.com
Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD),
bipolar disorder and juvenile myoclonic epilepsy (JME). We performed a genome-wide …

Diagnostic and therapeutic approach to drug-resistant juvenile myoclonic epilepsy

M Ascoli, G Mastroianni, S Gasparini… - Expert review of …, 2021 - Taylor & Francis
Introduction Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common
form of generalized epilepsy of presumed genetic origin representing up to 10% of all …

DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians

S Pathak, J Miller, EC Morris, WCL Stewart… - …, 2018 - Wiley Online Library
Objective Juvenile myoclonic epilepsy (JME) is a common adolescent‐onset genetic
generalized epilepsy (GGE) syndrome. Multiple linkage and association studies have found …

[HTML][HTML] Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes

CG Lee, J Lee, M Lee - PLoS One, 2018 - journals.plos.org
Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently
considered. The present study conducted a focused analysis of potential candidate or …

[HTML][HTML] Juvenile myoclonic epilepsy has hyper dynamic functional connectivity in the dorsolateral frontal cortex

Y Wang, IS Berglund, M Uppman, TQ Li - NeuroImage: Clinical, 2019 - Elsevier
Purpose Characterize the static and dynamic functional connectivity for subjects with
juvenile myoclonic epilepsy (JME) using a quantitative data-driven analysis approach …

A systematic review of resting-state and task-based fmri in juvenile myoclonic epilepsy

H Sanjari Moghaddam, A Sanjari Moghaddam… - Brain imaging and …, 2022 - Springer
Functional neuroimaging modalities have enhanced our understanding of juvenile
myoclonic epilepsy (JME) underlying neural mechanisms. Due to its non-invasive, sensitive …

[HTML][HTML] A systematic review and meta-analysis of factors related to first line drugs refractoriness in patients with juvenile myoclonic epilepsy (JME)

C Fayad, K Saad, GJ Kahwagi, S Hallit, D Griffin… - Plos one, 2024 - journals.plos.org
Introduction Juvenile Myoclonic Epilepsy (JME) is a prevalent form of epileptic disorder,
specifically categorized within the realm of Genetic Generalized Epilepsy (GGE). Its hallmark …