Timothy syndrome

JAlso known as Timothy syndrome multiple organ dysfunction, including autism. 

Figure 4. Mutations in the human Cavl.l and Cay 1.2 (L-type) voltage-gated calcium channels associated with Hypokalaemic Periodic Paralysis (HypoPP) and Timothy Syndrome (TS), respectively. Also shown is the nucleotide deletion in the mouse Cay 1.1 homolog associated with Muscular Dysgenesis...

Table 6. CACNA1C (Cav1.2, alc) Functional results for mutations associated with TS = Timothy Syndrome and implicated in ASD = autism spectrum disorder...

Erxleben C, Liao Y, Gentile S, Chin D, Gomez-Alegria C, Mori Y, Birnbaumer L, Armstrong DL (2006) Cyclosporin and Timothy syndrome increase mode 2 gating of CaV1.2 calcium channels through aberrant phosphorylation of S6 helices. Proc Natl Acad Sci USA 103 3932-3937. 

CACNAIC 12pl3.3 Cavl.2 Timothy syndrome D Gain... 

Ataxia, migraine, epilepsy Timothy Syndrome Banter s syndrome Diabetes Diabetes... 

M. Yazawa, B. Hsueh, X. Jia, A. M. Pasca, J. A. Bernstein, J. Hallmayer, R. E. Dohnetsch, Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Nature 471, 230-234 (2011). 

Curran, M.E., Splawski, I., Timothy, K.W., Vincent, G.M., Green, E.D., and Keating, M.T., A molecular basis for cardiac arrhythmia HERG mutations cause long QT syndrome, Cell, 80, 795,1995. 

Wang, Q., Shen, J.X., Li, Z.Z., Timothy, K Vincent, G.M., Priori, S.G., Schwartz, P.J. and Keating, M.T. (1995) Cardiac sodium-channel mutations in patients with long Qt syndrome. An inherited cardiac-arrhythmia. Human Molecular Genetics, 4, 1603—1607. 

Keating M, Dunn C, Atkinson D, Timothy K, Vincent GM, Leppert M. Consistent linkage of the long-QT syndrome to the harvey Ras-1 locus on chromosome 11. Am J Hum Genet 1991 49(6) 1335-1339. 

Jiang C, Atkinson D, Towbin JA, Splawski I, Lehmann MH, Li H, Timothy K, Taggart RT, Schwartz PJ, Vincent GM. Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nat Genet 1994 8(2) 141—147. 

Splawski I, Timothy KW, Vincent GM, Atkinson DL, Keating MT. Molecular basis of the long-QT syndrome associated with deafness. N Engl J Med 1997 336(22) 1562-1567. 

Zhang L, Timothy KW, Vincent GM, Lehmann MH, Fox J, et al. 2000. Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome ECG findings identify genotypes. Circulation 102 2849-55... 

---