Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. (Q34395488)

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13 February 2020

title

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death (English)

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Dan Hu

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Charles Antzelevitch

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Charles Antzelevitch

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Martin Borggrefe

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Rainer Schimpf

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Christian Wolpert

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Mark Marieb

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Gi-Byoung Nam

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Christian Veltmann

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Sami Viskin

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Guido D Pollevick

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Elena Burashnikov

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Alejandra Guerchicoff

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Alejandra Guerchicoff

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Mayurika Desai

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Hector Barajas-Martinez

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Héctor Barajas-Martinez

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author name string

Michel Häissaguerre

8

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Ronald Kanter

9

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Ruben Laiño

12

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Koonlawee Nademanee

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Roberto Robles

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Dwight D Stapleton

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Stephen Winters

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Samuel Zimmern

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Eva Delpón

4

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publication date

14 October 2010

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13 February 2020

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volume

7

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issue

12

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page(s)

1872-1882

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Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes

13 February 2020

cites work

1 reference

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A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.

6 July 2018

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An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

6 July 2018

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A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype

6 July 2018

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Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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L-type calcium channel C terminus autoregulates transcription

6 July 2018

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Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome

6 July 2018

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6 July 2018

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Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations

6 July 2018

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6 July 2018

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Augmentation of J waves and electrical storms in patients with early repolarization

6 July 2018

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Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20817017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20817017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Voltage-gated mobility of the Ca2+ channel cytoplasmic tails and its regulatory role

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20817017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.HRTHM.2010.08.026

1 reference

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13 February 2020

1 reference

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13 February 2020

PubMed publication ID

20817017

1 reference