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

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

doi:10.1111/epi.12259

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

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

Risultato della ricerca: Contributo in rivista › Articolo in rivista

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

Keywords

Adolescent
Bacterial Proteins
Biophysical Phenomena
Cell Line, Transformed
Channelopathy
DNA Mutational Analysis
Death, Sudden
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 death
Transfection
Twins, Dizygotic

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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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author = "Sara Partemi and Sandrine Cest{\`e}le and Marianna Pezzella and Oscar Campuzano and Roberta Paravidino and Pascali, {Vincenzo Lorenzo} and Federico Zara and Tassinari, {Carlo Alberto} and Salvatore Striano and Antonio Oliva and Ramon Brugada and Massimo Mantegazza and Pasquale Striano",

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doi = "10.1111/epi.12259",

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journal = "Epilepsia",

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AU - Partemi, Sara

AU - Cestèle, Sandrine

AU - Pezzella, Marianna

AU - Campuzano, Oscar

AU - Paravidino, Roberta

AU - Pascali, Vincenzo Lorenzo

AU - Zara, Federico

AU - Tassinari, Carlo Alberto

AU - Striano, Salvatore

AU - Oliva, Antonio

AU - Brugada, Ramon

AU - Mantegazza, Massimo

AU - Striano, Pasquale

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

KW - Adolescent

KW - Bacterial Proteins

KW - Biophysical Phenomena

KW - Cell Line, Transformed

KW - Channelopathy

KW - DNA Mutational Analysis

KW - Death, Sudden

KW - Electric Stimulation

KW - Electrocardiography

KW - Epilepsy

KW - Ether-A-Go-Go Potassium Channels

KW - Family Health

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SN - 1528-1167

VL - 54

SP - e112-e112-6

JO - Epilepsia

JF - Epilepsia

ER -

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

Abstract

Keywords

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