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Article

Novel Timothy syndrome mutation leading to increase in CACNA1C window current.

Heart rhythm - 1 Jan 2015

Boczek Nicole J, Miller Erin M, Ye Dan, Nesterenko Vladislav V, Tester David J, Antzelevitch Charles, Czosek Richard J, Ackerman Michael J, Ware Stephanie M

Abstract excerpt

BACKGROUND: Timothy syndrome (TS) is a rare multisystem genetic disorder characterized by a myriad of abnormalities, including QT prolongation, syndactyly, and neurologic symptoms. The predominant genetic causes are recurrent de novo missense mutations in exon 8/8A of the CACNA1C-encoded L-type calcium channel; however, some cases remain genetically elusive. OBJECTIVE: The purpose of this study was to identify...

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Source

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Identifiers

PMID: 25260352
DOI: 10.1016/j.hrthm.2014.09.051
PMCID: PMC4907369

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