Minimizing Seizure-Associated Adverse Effects Upon Gene Replacement Therapy in slc6a1 Epileptic Encephalopathy
Boston Children’s Hospital
2023
Hing Lee, PhD
LC6A1 epileptic encephalopathy is caused by mutations in a gene called solute carrier family 6 member 1 (SLC6A1). This gene normally makes a protein that helps brain cells communicate properly. Mutations in this gene can lead to improper neuronal communications, causing developmental delays, autism, and seizures.In this study, Dr. Lee will test whether gene replacement therapy, a treatment aimed at delivering normal copies of the SLC6A1 gene to the brain, can improve symptoms in mice lacking the SLC6A1 gene. If it works well and is safe, it could potentially be further developed into a new treatment for people with disorders linked to SLC6A1.In partnership with SLC6A1 Connect.
