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
May 7, 2020
Mutations in an Important Ion Channel in the Brain are Not the Cause of a Common Childhood Epilepsy
The authors conclude that the gene should be removed from commercial genetic testing panels to reduce the burden of mutations of uncertain significance for healthcare providers, families, and patients with epilepsy.