Rani Randell

The paper develops humanized mouse models for SYNGAP1 and STXBP1 disorders, showing similar electrophysiological and behavioral abnormalities in mice and patients, and demonstrates the efficacy of antisense oligonucleotides in modulating SYNGAP1 expression.

This study shows that microtubule forces, not the LINC complex, drive nuclear damage in LMNA cardiomyopathy and that disrupting microtubules can rescue cardiac function.