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.
January 9, 2020
Behind the Seizure® Program Further Expands Access to Genetic Testing for Children to Speed the Diagnosis of Genetic Epilepsy
The program will be expanded to make no-charge testing available for healthcare providers to order for any child under the age of eight who has an unprovoked seizure.
January 7, 2020
Phenotypic Spectrum and Genetics of SCN2A-Related Disorders, Treatment Options, and Outcomes in Epilepsy and Beyond
The critical role the NaV1.2 sodium channel plays in nervous system function is demonstrated by the breadth of severe phenotypes associated with pathogenic variants in the SCN2A gene.