Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

Keyphrases

• Molecular Mechanism 100%
• Epileptic 100%
• Epileptic Encephalopathy 100%
• Developmental Encephalopathy 100%
• KCNC2 100%
• Personalized Structural Biology 100%
• Variants of Uncertain Significance 75%
• Whole Exome Sequencing 50%
• Undiagnosed Diseases Network 50%
• Molecular Dynamics Simulation 25%
• Monogenic 25%
• Protein Function 25%
• Loss Function 25%
• Coding Variants 25%
• Protein-coding Genes 25%
• Pathogenic Variants 25%
• Rare Diseases 25%
• 3D Protein Structure 25%
• Clinical Phenotype 25%
• Structural Modeling 25%
• Gain-of-function 25%
• Biochemical Analysis 25%
• Ion Channels 25%
• Channel Pore 25%
• Hypothesis-driven 25%
• Open State 25%
• Voltage-gated Potassium Channel 25%
• Electrophysiological Analysis 25%
• 4-aminopyridine 25%
• Differential Response 25%
• Open Conformation 25%
• Analytical Framework 25%
• Energy Barrier 25%
• Recent Innovation 25%
• Kv3.2 25%
• Actionable Insights 25%

Biochemistry, Genetics and Molecular Biology

• KCNC2 100%
• Exome Sequencing 50%
• Protein Function 25%
• Conformation 25%
• Energy Transfer 25%
• Protein Characterization 25%
• Voltage-Gated Potassium Channel 25%
• 4-Aminopyridine 25%
• Computer Simulation 25%
• Ion Channel 25%