SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome (Q24317024)

regulation of ventricular cardiac muscle cell membrane depolarization

GOA release 2020-03-11

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GOA release 2020-03-11

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Q Wang

1

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J Shen

2

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I Splawski

3

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D Atkinson

4

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Z Li

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J L Robinson

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A J Moss

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J A Towbin

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M T Keating

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

9

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language of work or name

English

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publication date

10 March 1995

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published in

Cell

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volume

80

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page(s)

805-11

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issue

5

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cites work

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The steady state TTX-sensitive ("window") sodium current in cardiac Purkinje fibres

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Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death

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The long Q-T syndrome

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Sudden death risk in overt coronary heart disease: the Framingham Study

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Proarrhythmic effects of antiarrhythmic drugs

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Circadian variation in the incidence of sudden cardiac death in the Framingham Heart Study population

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Cloning and characterization of the human gene for the alpha-subunit of Gi2, a GTP-binding signal transduction protein

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7 January 2021

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

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Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

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7 January 2021

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

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Clinical relevance of cardiac arrhythmias generated by afterdepolarizations. Role of M cells in the generation of U waves, triggered activity and torsade de pointes.

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A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3.

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Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3

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Regional localization of the human G protein αi2 (GNAI2) gene: Assignment to 3p21 and a related sequence (GNAI2L) to 12p12–p13

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Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

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CONGENITAL CARDIAC ARRHYTHMIA

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7 January 2021

Structural parts involved in activation and inactivation of the sodium channel

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A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

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Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding

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Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

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Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity

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The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome

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The genomic structure of the human skeletal muscle sodium channel gene

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Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products

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Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

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Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene

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Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene

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Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21.

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The long QT syndrome. Prospective longitudinal study of 328 families

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Linkage analysis and long QT syndrome. Using genetics to study cardiovascular disease

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