Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Long-QT-Syndrom 02

Das Long-QT-Syndrom 2 ist eine autosomal dominante Erkrankung die durch Mutationen des KCNH2-Gens ausgelöst wird.

Gliederung

Long-QT-Syndrom
Long-QT-Syndrom 01
Long-QT-Syndrom 02
KCNH2
Long-QT-Syndrom 13

Referenzen:

1.

Curran ME et. al. (1995) A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

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2.

Zhou Z et. al. (1998) HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects.

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3.

Zareba W et. al. (1998) Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

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4.

Priori SG et. al. (1999) Low penetrance in the long-QT syndrome: clinical impact.

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5.

Jongbloed RJ et. al. (1999) Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

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6.

Moss AJ et. al. (2002) Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.

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7.

Lees-Miller JP et. al. (2003) Selective knockout of mouse ERG1 B potassium channel eliminates I(Kr) in adult ventricular myocytes and elicits episodes of abrupt sinus bradycardia.

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8.

Tester DJ et. al. (2005) Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

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9.

Millat G et. al. (2006) Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

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10.

Amin AS et. al. (2008) Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome.

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11.

Itzhaki I et. al. (2011) Modelling the long QT syndrome with induced pluripotent stem cells.

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12.

Priori SG et. al. (1999) Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II.

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13.

Priori SG et. al. (1999) Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III.

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14.

Imboden M et. al. (2006) Female predominance and transmission distortion in the long-QT syndrome.

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15.

Jiang C et. al. (1994) Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity.

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16.

Akar FG et. al. (2002) Unique topographical distribution of M cells underlies reentrant mechanism of torsade de pointes in the long-QT syndrome.

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17.

Rajamani S et. al. (2002) Pharmacological rescue of human K(+) channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block.

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18.

Petersen CI et. al. (2004) In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia.

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19.

Roden DM et. al. (2005) Genetics of acquired long QT syndrome.

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20.

Sasano T et. al. (2006) Molecular ablation of ventricular tachycardia after myocardial infarction.

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