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.

Partemi, S., Cestèle, S., Pezzella, M., Campuzano, O., Paravidino, R., Pascali, V. L., Zara, F., Tassinari, C., Striano, S., Oliva, A., Brugada, R., Mantegazza, M., Striano, P., Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death, <<EPILEPSIA>>, 2013; 54 (8): e112-e112-6. [doi:10.1111/epi.12259] [http://hdl.handle.net/10807/53083]

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

Partemi, Sara;Pascali, Vincenzo Lorenzo;Oliva, Antonio;
2013

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.
2013
Inglese
Partemi, S., Cestèle, S., Pezzella, M., Campuzano, O., Paravidino, R., Pascali, V. L., Zara, F., Tassinari, C., Striano, S., Oliva, A., Brugada, R., Mantegazza, M., Striano, P., Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death, <<EPILEPSIA>>, 2013; 54 (8): e112-e112-6. [doi:10.1111/epi.12259] [http://hdl.handle.net/10807/53083]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/53083
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