Publication: Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)
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Templin, C., Ghadri, J. R., Rougier, J. S., Baumer, A., Kaplan, V., Albesa, M., Sticht, H., Rauch, A., Puleo, C., Hu, D., Barajas-Martinez, H., Antzelevitch, C., Lüscher, T. F., Abriel, H., & Duru, F. (2011). Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9), 1077–1088. https://doi.org/10.1093/eurheartj/ehr076
Abstract
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Abstract
In the present study, we report the first pathogenic mutation in the CACNA2D1 gene in humans, which causes a new variant of SQTS. It remains to be determined whether mutations in this gene lead to other manifestations of the J-wave syndrome.
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- Templin, C
- Ghadri, J R
- Rougier, J S
- Baumer, A
- Kaplan, V
- Albesa, M
- Sticht, H
- Rauch, A
- Puleo, C
- Hu, D
- Barajas-Martinez, H
- Antzelevitch, C
- Lüscher, T F
- Abriel, H
- Duru, F
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Templin, C., Ghadri, J. R., Rougier, J. S., Baumer, A., Kaplan, V., Albesa, M., Sticht, H., Rauch, A., Puleo, C., Hu, D., Barajas-Martinez, H., Antzelevitch, C., Lüscher, T. F., Abriel, H., & Duru, F. (2011). Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9), 1077–1088. https://doi.org/10.1093/eurheartj/ehr076
