Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Epilepsia Année : 2013

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

Résumé

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.
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Dates et versions

hal-00854562 , version 1 (27-08-2013)

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Sara Partemi, Sandrine Cestèle, Marianna Pezzella, Oscar Campuzano, Roberta Paravidino, et al.. Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.. Epilepsia, 2013, 54 (8), pp.e112-6. ⟨10.1111/epi.12259⟩. ⟨hal-00854562⟩
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