A human TSC1 mutation screening platform in GABAergic cortical interneurons for Genotype to Phenotype assessments
Dean Wundrach, Luis E. Martinetti, April M Stafford, Stephanie M. Bilinovich, Kartik Angara, Jeremy W. Prokop, Shane R. Crandall, Daniel L. Vogt
This study assesses how TSC1 missense variants affect cortical inhibitory interneurons, revealing some variants can partially restore function while others show specific deficits.
Frontiers in Molecular Neuroscience · Sep 18, 2020Peer-reviewedNeuroscience