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

Ct De Llano; O Campuzano; A Pérez Serra; I Mademont; M Coll; C Allegue; A Iglesias; S Partemi; P Striano; Antonio Oliva; R. 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

Ct De Llano, O Campuzano, A Pérez Serra, I Mademont, M Coll, C Allegue, A Iglesias, S Partemi, P Striano, Antonio Oliva, R. Brugada^*

^*Autore corrispondente per questo lavoro

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

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

All Science Journal Classification (ASJC) codes

Neurologia
Neurologia (clinica)

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 = "{De Llano}, Ct and O Campuzano and {P{\'e}rez Serra}, A and I Mademont and M Coll and C Allegue and A Iglesias and S Partemi and P Striano and Antonio Oliva and R. Brugada",

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

AU - De Llano, Ct

AU - Campuzano, O

AU - Pérez Serra, A

AU - Mademont, I

AU - Coll, M

AU - Allegue, C

AU - Iglesias, A

AU - Partemi, S

AU - Striano, P

AU - Oliva, Antonio

AU - Brugada, R.

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

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JO - SEIZURE

JF - SEIZURE

IS - Gennaio

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

Keywords

Accesso al documento

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