The road to the brain in Timothy syndrome is paved with enhanced CaV1.2 activation gating

J Gen Physiol. 2022 Nov 7;154(11):e202213272. doi: 10.1085/jgp.202213272. Epub 2022 Oct 20.

Abstract

Specific gating effects of Timothy syndrome CaV1.2 channel mutations determine cardiovascular versus nervous system deficits.

Publication types

  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Autistic Disorder*
  • Brain
  • Humans
  • Long QT Syndrome*
  • Syndactyly*

Supplementary concepts

  • Timothy syndrome