Publications by authors named "K W Timothy"
Article Synopsis
- - Timothy syndrome, caused by variants in the CACNA1C gene, was originally recognized for its cardiac symptoms (long QT syndrome) and physical abnormalities (syndactyly), but more recent research has unveiled a wider range of symptoms associated with different CACNA1C variants.
- - A survey was conducted with parents of Timothy syndrome patients to gather information on various symptoms, grouping participants by genetic type and initial diagnosis to compare their conditions.
- - The study found that patients commonly show both cardiac and extra-cardiac symptoms, such as neurodevelopmental issues and respiratory problems, regardless of their classification, indicating that the current understanding of "non-syndromic" cases may not fully capture the complexity of the disease.
Article Synopsis
- * Researchers created a G406R knockin mouse model that exhibits TS features, including hypoglycemia, but surprisingly does not show increased beta cell activity or hyperinsulinism.
- * The study unveils alternative mechanisms for hypoglycemia, such as impaired hormone responses and disrupted hypothalamic regulation of glucose levels, enhancing our understanding of how mutant channels impact TS.
Timothy syndrome (OMIM #601005) is a rare disease caused by variants in the gene . Timothy syndrome patients were first identified as having a cardiac presentation of Long QT and syndactyly of the fingers and/or toes, and an identical variant in , Gly406Arg. However, since this original identification, more individuals harboring diverse variants in have been identified and have presented with various cardiac and extra-cardiac symptoms.
View Article and Find Full Text PDFIntroduction: Timothy syndrome (TS) is an extremely rare, multisystem disorder classically associated with long QT, syndactyly, ventricular arrhythmias, and hypoglycaemia. A neonatal diagnosis allows maximal medical and device therapy to be implemented to avoid malignant arrhythmias and sudden cardiac death.
Methods: This was a retrospective case series study of type I TS (TS1) patients using data from the Timothy Syndrome Foundation's international registry, encompassing patients with a genetic diagnosis (CACNA1C variant G406R in exon 8A) recruited over a 28-year period.