Gemma Wilkinson on Muck Rack

Gemma Wilkinson

Verified
United Kingdom
As seen in: BBC Radio Nottingham, Nature
Producer for BBC Radio Nottingham. These are my personal views, not those of the BBC. Christian, loves crafts, books and baking.
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Articles

Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement

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By Jack Underwood Verified, Katherine W. Timothy, Ivy E. Dick, Geoffrey S. Pitt, Elizabeth M. Tunbridge, Anwar Baban, Gemma Wilkinson Verified, Nicola Hall, Rosemary Zea Bauer, Dominic Abrams, Jeremy Hall, Holly Tyroll, Georgia Sarquella Brugada
| Nature Verified
Abstract Timothy syndrome is a multisystemic genetic disorder, classically characterised by prolonged QT interval and subsequent cardiac arrhythmias, neurodevelopmental disorders including developmental delay and autism and syndactyly or hip dysplasia. It is caused by variants in the CACNA1C gene, which encodes the widely expressed Cav1.2 voltage-gated calcium channel. Since its characterisation in 2004, the number of variants in CACNA1C associated with Timothy syndrome has expanded.
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