Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.

Abstract excerpt

Clinically identified genetic variants in ion channels can be benign or cause disease by increasing or decreasing the protein function. As a consequence, therapeutic decision-making is challenging without molecular testing of each variant. Our biophysical knowledge of ion-channel structures and function is just emerging, and it is currently not well understood which amino acid residues cause disease when mutated....

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• Biophysics
• Phenotype
• Receptors, N-Methyl-D-Aspartate
• Seizures
• Virulence