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

Sara Partemi; S Cestèle; M Pezzella; O Campuzano; R Paravidino; Vincenzo Lorenzo Pascali; F Zara; Ca Tassinari; S Striano; Antonio Oliva; R Brugada; M Mantegazza; P. Striano

doi:10.1111/epi.12259

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

Sara Partemi, S Cestèle, M Pezzella, O Campuzano, R Paravidino, Vincenzo Lorenzo Pascali, F Zara, Ca Tassinari^*, S Striano, Antonio Oliva, R Brugada, M Mantegazza, P. Striano

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Risultato della ricerca: Contributo in rivista › Articolo

38 Citazioni (Scopus)

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.

Lingua originale	Inglese
pagine (da-a)	e112-e112-6
Rivista	Epilepsia
Volume	54
Numero di pubblicazione	8
DOI	https://doi.org/10.1111/epi.12259
Stato di pubblicazione	Pubblicato - 2013

All Science Journal Classification (ASJC) codes

Neurologia
Neurologia (clinica)

Keywords

Adolescent
Bacterial Proteins
Biophysical Phenomena
Cell Line
Channelopathy
DNA Mutational Analysis
Death
Dizygotic
Electric Stimulation
Electrocardiography
Epilepsy
Ether-A-Go-Go Potassium Channels
Family Health
Female
Humans
KCNH2
Long QT Syndrome
Long QT syndrome
Luminescent Proteins
Membrane Potentials
Patch-Clamp Techniques
Point Mutation
Sudden
Sudden death
Transfection
Transformed
Twins

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10.1111/epi.12259

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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.",

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AU - Partemi, Sara

AU - Cestèle, S

AU - Pezzella, M

AU - Campuzano, O

AU - Paravidino, R

AU - Pascali, Vincenzo Lorenzo

AU - Zara, F

AU - Tassinari, Ca

AU - Striano, S

AU - Oliva, Antonio

AU - Brugada, R

AU - Mantegazza, M

AU - Striano, P.

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

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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