Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Short QT syndrome 1 is an autosomal dominant disorder caused by a missense mutations of the KCNH2 gene at codon position 588.
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Hong K et al. (2005) Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. 
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| 2. |
Gussak I et al. (2000) Idiopathic short QT interval: a new clinical syndrome?
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| 3. |
Gaita F et al. (2003) Short QT Syndrome: a familial cause of sudden death.
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| 4. |
Brugada R et al. (2004) Sudden death associated with short-QT syndrome linked to mutations in HERG.
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| 5. |
Priori SG et al. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.
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| 6. |
Bellocq C et al. (2004) Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.
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| 7. |
Gouas L et al. (2005) Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.
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| 8. |
Schimpf R et al. (2005) Short QT syndrome.
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| 9. |
Moreno C et al. (2015) A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.
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| 10. |
OMIM.ORG article Omim 609620
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