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Rare childhood genetic syndrome identified

e calcium channel was active not only in heart muscle cells, but in tissues of the gastrointestinal system, lungs, immune system, smooth muscle, testes, and brain including brain regions that are known to show abnormalities in autism. Keating notes, however, that autism is a complex disorder with many different causative factors.

The study was led by Igor Splawski, PhD, in the Cardiovascular Research Division at Children's Hospital Boston in collaboration with the University of Utah and the Boston University School of Medicine. The researchers will continue to treat patients with Timothy syndrome and evaluate their response to calcium-blockers. They will also continue to look for arrhythmia genes and other calcium channels that might be involved in arrhythmia, and try to determine whether this calcium channel is involved in other forms of autism.


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Contact: Bess Andrews
elizabeth.andrews@childrens.harvard.edu
617-355-6420
Children's Hospital Boston
30-Sep-2004


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