LQT8

Long QT Syndrome Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]

Overview

LQT8 subtype of long QT syndrome, also known as Timothy's syndrome is due to mutations causing abnormalities in calcium channels.

LQT8 Subtype

Type	OMIM	Mutation	Notes
LQT8	601005	alpha subunit of the calcium channel Cav1.2 encoded by the gene CACNA1c.	Leads to Timothy's syndrome.

Timothy's syndrome is due to mutations in the calcium channel Cav1.2 encoded by the gene CACNA1c. Since the Calcium channel Cav1.2 is abundant in many tissues, patients with Timothy's syndrome have many clinical manifestations including congenital heart disease, autism, syndactyly and immune deficiency.