Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.

Abstract excerpt

Timothy syndrome (TS) is a rare genetic disorder caused by mutations in the CACNA1C gene, which encodes the L-type calcium channel α1 CaV1.2 subunit. While it is expressed throughout the body, the most serious symptoms are cardiac and neurological. Classical TS type 1 (TS1) and TS type 2 (TS2) mutations cause prolonged action potentials (APs) in cardiomyocytes and in induced neurons derived from pluripotent stem...

Topics

• Animals
• Disease Models, Animal
• Long QT Syndrome
• Syndactyly
• Autistic Disorder
• Calcium Channels, L-Type