In this study, researchers identify a set of neurons in the brain as critical targets for therapeutic intervention, utilizing a mouse model mimicking a mutation of the sodium channel gene SCN8A found in 14 individuals with epilepsy. These individuals had seizures that began in the prenatal or infantile period as well as severe verbal delays. The researchers report that this mutation resulted in seizures in both juvenile and adult mice, suggesting that successful therapy would require lifelong treatment.
September 20, 2023
CDKL5-Mediated Developmental Tuning of Neuronal Excitability and Concomitant Regulation of Transcriptome
Validated multiple differentially expressed genes (DEGs), such as glycine receptor subunit 2 and cholecystokinin, at the transcript and/or protein levels, supporting the relevance of these genes to CDKL5-regulated excitability.
September 6, 2023
Largest Genetic Study of Epilepsy to Date Provides New Insights on Why Epilepsy Develops and Potential Treatments
The researchers identified 26 distinct areas in our DNA that appear to be involved in epilepsy. This included 19 which are specific to a particular form of epilepsy called ‘genetic generalized epilepsy’ (GGE).