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An autosomal dominant condition caused by mutation(s) in the CACNA1C gene, encoding voltage-dependent L-type calcium channel subunit alpha-1C. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. [ NCI ]

Synonyms: Timothy Syndrome Long QT Syndrome 8 LQT8

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Term information

Subsets

NCIT_C165258

Contributing Source

Cellosaurus

Preferred Name

Long QT Syndrome 8

Semantic Type

Disease or Syndrome

UMLS CUI

C1832916

code

C142894

Term relations

Subclass of: