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Article

Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.

American journal of medical genetics. Part A - 1 Mar 2015

Hiippala Anita, Tallila Jonna, Myllykangas Samuel, Koskenvuo Juha W, Alastalo Tero-Pekka

Abstract excerpt

Timothy syndrome is a rare multiorgan disorder with prolonged QTc interval, congenital heart defects, syndactyly, typical facial features and neurodevelopmental problems. Ventricular tachyarrhythmia is the leading cause of death at early age. Classical Timothy syndrome type 1 (TS1) results from a recurrent de novo CACNA1C mutation, G406R in exon 8 A. An atypical form of Timothy syndrome type 2 (TS2) is caused by...

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Source

Identifiers

PMID: 25691416
DOI: 10.1002/ajmg.a.36924

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.PMID 25691416Read ↗

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A Natural History Study of Timothy SyndromeSemantic proximity Read ↗

Same Gene, Different Story (a Case Report of Congenital Long QT Syndrome Subtype 8 With a Novel Mutation).Semantic proximity Read ↗

Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus StatementSemantic proximity Read ↗

Timothy Syndrome and Torsades De Pointes in a Newborn - Case ReportSemantic proximity Read ↗

Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.Semantic proximity Read ↗

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