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

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

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Partemi, Sara | Cestèle, Sandrine | Pezzella, Marianna | Campuzano, Oscar | Paravidino, Roberta | Pascali, Vincenzo L | Zara, Federico | Tassinari, Carlo Alberto | Striano, Salvatore | Oliva, Antonio | Brugada, Ramon | Mantegazza, Massimo | Striano, Pasquale

Edité par CCSD ; Wiley -

International audience. 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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