KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome. (Q33161213)

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29 January 2020

title

KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome (English)

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29 January 2020

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29 January 2020

José J Zamorano-León

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29 January 2020

Rosa Yañez

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29 January 2020

Gabriel Jaime

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29 January 2020

Pablo Rodriguez-Sierra

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29 January 2020

Laura Calatrava-Ledrado

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29 January 2020

Roman R Alvarez-Granada

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29 January 2020

Petra Jiménez Mateos-Cáceres

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29 January 2020

Carlos Macaya

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29 January 2020

publication date

19 April 2012

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29 January 2020

published in

Journal of Neurogenetics

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29 January 2020

volume

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29 January 2020

issue

3-4

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29 January 2020

page(s)

382-386

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New SCN5A mutation in a SUDEP victim with idiopathic epilepsy

29 January 2020

cites work

1 reference

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Guidelines for Epidemiologic Studies on Epilepsy. Commission on Epidemiology and Prognosis, International League Against Epilepsy

21 January 2018

1 reference

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Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy.

21 January 2018

1 reference

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The genetic basis of long QT and short QT syndromes: a mutation update

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2012.674993

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2012.674993

Misdiagnosis of long QT syndrome as epilepsy at first presentation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2012.674993

The long QT syndrome. Prospective longitudinal study of 328 families

21 January 2018

1 reference

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Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2012.674993

HERG, a Human Inward Rectifier in the Voltage-Gated Potassium Channel Family

21 January 2018

1 reference

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Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

21 January 2018

1 reference

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The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2012.674993

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation

21 January 2018

1 reference

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A family of potassium channel genes related to eag in Drosophila and mammals

21 January 2018

1 reference

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Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2012.674993

Novel mutation (H402R) in the S1 domain of KCNH2-encoded gene associated with long QT syndrome in a Spanish family

21 January 2018

1 reference

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Congenital long QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2012.674993

10.3109/01677063.2012.674993

21 January 2018

Identifiers

DOI

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29 January 2020

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