A Human Variant Screening Platform in Gabaergic Cortical Interneurons for Genotype to Phenotype Assessments.

The and genes are connected to multiple syndromes from Tuberous Sclerosis Complex (TSC) to autism spectrum disorder (ASD), with uncertainty if genetic variants cause all or subsets of phenotypes based on the location and type of change. For , few have addressed if non-TSC associated genetic variants have direct contributions to changes in neurological genotype-to-phenotype impacts, including elevated rates of ASD and seizures. Dominant variants cause TSC, yet has many heritable variants not dominant for TSC that are poorly understood in neurological function, with some associated with ASD.