Jin Hao

Apr 24, 2024 | nature.com | Xiaoyu Chen |Fikri Birey |Min-Yin Li |Noah Reis |Jin Hao |Xiangling Meng

AbstractTimothy syndrome (TS) is a severe, multisystem disorder characterized by autism, epilepsy, long-QT syndrome and other neuropsychiatric conditions1. TS type 1 (TS1) is caused by a gain-of-function variant in the alternatively spliced and developmentally enriched CACNA1C exon 8A, as opposed to its counterpart exon 8.