Abstract
Timothy syndrome (TS) is a rare variant of Long QT Syndrome (LQT8). We have recently reported a mutation in the cardiac voltage-gated calcium channel (Cav1.2) in several TS patients (pts). However, the clinical features and genotype-phenotype correlation of TS remain poorly investigated. Here, we report the phenotypic characterization of the largest series of TS patients studied so far. Twenty children with TS have been thoroughly phenotyped during a follow up of 12 years. Genetic analysis was performed in all patients with available DNA and showed the same (G406R) Cav1.2 mutation (n=12 probands).
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