NIH R01 · 2025
Next generation calcium channel modulators
Project Summary Timothy syndrome (TS) is a rare, multisystem disorder caused by a mutation within the CaV1.2 L-type Ca2+ channel. Despite considerable research, treatment for TS remains limited and often results in death in early childhood due to severe long-QT syndrome and cardiac arrythmia. Thus, there is a critical need for increased understanding of pathogenesis, and development of new treatment options for TS. While most TS mutations cause gain-of-function (GOF) effects on the channel, when broken down by channel property the mutations cause a spectrum of biophysical changes, differentially effecting channel activation, voltage-dependent inactivation (VDI) and Ca2+-dependent…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.