Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family

Keyphrases

• Healthcare 100%
• Pathogenic Variants 100%
• Molecular Autopsy 100%
• KCNH2 Gene 100%
• Family Members 50%
• HERG 50%
• Loss Function 50%
• Decedents 50%
• Molecular Diagnostics 50%
• KCNH2 50%
• Functional Studies 25%
• Antemortem 25%
• Steady State 25%
• 18 Years Old 25%
• Young Female 25%
• First-degree Relatives 25%
• Accurate Determination 25%
• Family Study 25%
• Functional Characterization 25%
• Haploinsufficiency 25%
• Current Density 25%
• Surface Expression 25%
• Cost Savings 25%
• Forensic Investigation 25%
• Patch Clamp 25%
• COS-7 Cells 25%
• Unnatural Death 25%
• Rapid Pacing 25%
• Health Insurance Coverage 25%
• Medical Insurance 25%
• Precision Care 25%
• Mixed Phenotype 25%
• Co-segregation 25%
• United States Healthcare System 25%
• Activation Curve 25%
• Natural Causes of Death 25%
• Steady-state Inactivation 25%
• Death Care 25%
• Precision Management 25%
• Positive Shifts 25%
• Heterozygous State 25%
• Negative Voltage 25%
• Inactivation Curve 25%
• Accelerated Deactivation 25%
• Novel Nonsense Variant 25%
• Long QT Syndrome Type 2 25%
• Voltage Shift 25%

Medicine and Dentistry

• Steady State 100%
• Health Care Cost 50%
• Electrocardiogram 50%
• Long QT Syndrome 50%
• Patch Clamp 50%
• Haploinsufficiency 50%
• Natural Cause of Death 50%
• Degree Relative 50%

Biochemistry, Genetics and Molecular Biology

• Steady State 100%
• Wild Type 50%
• Electric Potential 50%
• Electrocardiogram 50%
• Haploinsufficiency 50%
• Patch Clamp 50%
• Current Density 50%
• Long QT Syndrome 50%