Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant

Antonio Oliva; Coloma Tiron De Llano; Oscar Campuzano; Alexandra Pérez-Serra; Irene Mademont; Monica Coll; Catarina Allegue; Anna Iglesias; Pasquale Striano; Ramon Brugada

doi:10.1016/j.seizure.2015.01.003

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant

Antonio Oliva, Coloma Tiron De Llano, Oscar Campuzano, Alexandra Pérez-Serra, Irene Mademont, Monica Coll, Catarina Allegue, Anna Iglesias, Pasquale Striano, Ramon Brugada

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

35 Citazioni (Scopus)

Abstract

Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family.

Lingua originale	English
pagine (da-a)	65-67
Numero di pagine	3
Rivista	SEIZURE
Volume	25
DOI	https://doi.org/10.1016/j.seizure.2015.01.003
Stato di pubblicazione	Pubblicato - 2015

Keywords

Epilepsy
KCNQ1
Long QT syndrome

Accesso al documento

10.1016/j.seizure.2015.01.003

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title = "Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant",

abstract = "Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family.",

keywords = "Epilepsy, KCNQ1, Long QT syndrome, Epilepsy, KCNQ1, Long QT syndrome",

author = "Antonio Oliva and {De Llano}, {Coloma Tiron} and Oscar Campuzano and Alexandra P{\'e}rez-Serra and Irene Mademont and Monica Coll and Catarina Allegue and Anna Iglesias and Pasquale Striano and Ramon Brugada",

year = "2015",

doi = "10.1016/j.seizure.2015.01.003",

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journal = "Seizure : the journal of the British Epilepsy Association",

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Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant. / Oliva, Antonio; De Llano, Coloma Tiron; Campuzano, Oscar; Pérez-Serra, Alexandra; Mademont, Irene; Coll, Monica; Allegue, Catarina; Iglesias, Anna; Striano, Pasquale; Brugada, Ramon.

In: SEIZURE, Vol. 25, 2015, pag. 65-67.

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

TY - JOUR

T1 - Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant

AU - Oliva, Antonio

AU - De Llano, Coloma Tiron

AU - Campuzano, Oscar

AU - Pérez-Serra, Alexandra

AU - Mademont, Irene

AU - Coll, Monica

AU - Allegue, Catarina

AU - Iglesias, Anna

AU - Striano, Pasquale

AU - Brugada, Ramon

PY - 2015

Y1 - 2015

N2 - Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family.

AB - Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family.

KW - Epilepsy

KW - KCNQ1

KW - Long QT syndrome

KW - Epilepsy

KW - KCNQ1

KW - Long QT syndrome

UR - http://hdl.handle.net/10807/65925

U2 - 10.1016/j.seizure.2015.01.003

DO - 10.1016/j.seizure.2015.01.003

M3 - Article

VL - 25

SP - 65

EP - 67

JO - Seizure : the journal of the British Epilepsy Association

JF - Seizure : the journal of the British Epilepsy Association

SN - 1059-1311

ER -