Article

A human <i>TSC1</i> mutation screening platform in GABAergic cortical interneurons for Genotype to Phenotype assessments

2020-06-02

Abstract excerpt

Tuberous Sclerosis Complex is a complex syndrome that affects multiple organs and is caused by dysfunction of either the TSC1 or TSC2 genes. One of the least understood features of TSC is the impact of TSC1&2 variants on brain phenotypes, including elevated rates of autism spectrum disorder and seizures. Moreover, while a great deal of work has uncovered how loss of either gene can alter various neural cell typ...

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Literature Corpus work: aa188471-e2f9-50ce-b80b-18952cf0491b
DOI: 10.1101/2020.06.01.128611

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