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Article

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.

Journal of molecular and cellular cardiology - 1 Mar 2015

Wemhöner Konstantin, Friedrich Corinna, Stallmeyer Birgit, Coffey Alison J, Grace Andrew, Zumhagen Sven, Seebohm Guiscard, Ortiz-Bonnin Beatriz, Rinné Susanne, Sachse Frank B, Schulze-Bahr Eric, Decher Niels

Abstract excerpt

Gain-of-function mutations in CACNA1C, encoding the L-type Ca(2+) channel Cav1.2, cause Timothy syndrome (TS), a multi-systemic disorder with dysmorphic features, long-QT syndrome (LQTS) and autism spectrum disorders. TS patients have heterozygous mutations (G402S and G406R) located in the alternatively spliced exon 8, causing a gain-of-function by reduced voltage-dependence of inactivation. Screening 540...

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PMID: 25633834
DOI: 10.1016/j.yjmcc.2015.01.002

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