Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A

Medicine & Life Sciences

• Phenotype 100%
• Mutation 93%
• Fever 74%
• Ventricular Tachycardia 70%
• Romano-Ward Syndrome 55%
• Sodium 55%
• Paternal Inheritance 48%
• Brugada Syndrome 45%
• Long QT Syndrome 43%
• Peptides 42%
• Maternal Inheritance 42%
• Sodium Channels 39%
• HEK293 Cells 36%
• Site-Directed Mutagenesis 35%
• Missense Mutation 34%
• DNA Sequence Analysis 33%
• Open Reading Frames 31%
• Cardiac Arrhythmias 28%
• High Pressure Liquid Chromatography 27%
• Alleles 24%
• Amino Acids 23%
• Polymerase Chain Reaction 19%
• Wounds and Injuries 16%
• In Vitro Techniques 14%
• Genes 13%