Key result
A novel homozygous SCN5A missense mutation (p.I230T) caused a severe, recessive type of complex cardiac arrhythmia characterized by decreased sodium current and loss of channel function.
Population
4 children from a family originating from the German minority in White Russia with a history of early…
Comparison
Homozygous SCN5A missense mutation (p.I230T) vs Heterozygous mutation carriers and wild-type…
Design
Case_series
Authors
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May alert clinicians to recessive SCN5A variants in unexplained pediatric arrhythmias; extends loss-of-function spectrum but remains hypothesis-generating.
Case Report (n=4)
Identifies a novel recessive SCN5A mutation (p.I230T) that causes a severe, complex cardiac arrhythmia overlap syndrome in children due to loss of sodium channel function.
Neu et al. (2010) conducted a case report in Cardiac conduction disease and severe ventricular arrhythmias (n=4). Homozygous SCN5A missense mutation (p.I230T) vs. Heterozygous mutation carriers was evaluated on Clinical phenotype and biophysical sodium channel properties. A novel homozygous SCN5A missense mutation (p.I230T) caused a severe, recessive type of complex cardiac arrhythmia characterized by decreased sodium current and loss of channel function.
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