Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant

Circ Genom Precis Med. 2023 Jun;16(3):280-282. doi: 10.1161/CIRCGEN.122.004010. Epub 2023 Apr 3.
No abstract available

Keywords: Timothy syndrome; atrioventricular block; long QT syndrome; mexiletine; ranolazine; sudden death; ventricular fibrillation.

MeSH terms

  • Autistic Disorder* / genetics
  • Calcium Channels, L-Type / genetics
  • Child
  • Humans
  • Long QT Syndrome* / diagnosis
  • Long QT Syndrome* / genetics
  • Syndactyly* / diagnosis
  • Syndactyly* / genetics

Substances

  • CACNA1C protein, human
  • Calcium Channels, L-Type

Supplementary concepts

  • Timothy syndrome