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Timothy syndrome

Disease ID:928
Name:Timothy syndrome
Associated with:1 target
Database Links
Disease Ontology: DOID:0060173
OMIM: 601005
Orphanet: ORPHA65283


Mutations:  Cav1.2 is associated with 3 mutation. Click here for details


No ligand related data available for Timothy syndrome


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1. Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, Babul-Hirji R, Chitayat D. (2012) Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. Am J Med Genet A, 158A (1): 182-7. [PMID:22106044]

2. Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. (2005) Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci USA, 102 (23): 8089-8096; discussion 8086-8088. [PMID:15863612]

3. Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K et al.. (2004) Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell, 119 (1): 19-31. [PMID:15454078]