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.
July 13, 2019
October 22, 2019
CURE Discovery: Understanding and Treating NMDA Receptor-Associated Epilepsy
Researchers are studying whether off-label treatment with certain FDA-approved drugs can improve seizure control for individuals who have a GRIN mutation and whose epilepsy is caused by over-activation of NMDA-R.