Millevert et al. studied genetic variants in the GABRB1 gene associated with epilepsy. Analysis of functional effects and clinical data from 19 individuals

Excitatory amino acid transporter 2 (EAAT2) is the predominant glutamate transporter and a key mediator of excitatory neurotransmission in the human b…

Knowledge of the natural history of CDKL5 deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical ...

Cenobamate is a promising and safe treatment for SCN8A-DEE, even during early childhood. As a potential precision approach to treatment, cenobamate significantly reduced seizure burden and improved n...

Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans...

Nature Communications - Somatic variants in certain genes can cause lesional focal epilepsy. Here the authors perform the largest somatic variant detection study in epilepsy to date, finding...