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Epilepsia. 2013 Aug;54(8):e112-6. doi: 10.1111/epi.12259.

Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

Author information

1
Institute of Legal Medicine, Catholic University, School of Medicine, Rome, Italy.

Abstract

There has been increased interest in a possible association between epilepsy channelopathies and cardiac arrhythmias, such as long QT syndrome (LQTS). We report a kindred that features LQTS, idiopathic epilepsy, and increased risk of sudden death. Genetic study showed a previously unreported heterozygous point mutation (c.246T>C) in the KCNH2 gene. Functional studies showed that the mutation induces severe loss of function. This observation provides further evidence for a possible link between idiopathic epilepsy and LQTS.

KEYWORDS:

Channelopathy; Epilepsy; KCNH2; Long QT syndrome; Sudden death

PMID:
23899126
DOI:
10.1111/epi.12259
[Indexed for MEDLINE]
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