Key words: voltage-gated sodium channels; complexity; pain medicine; pain genetics; variants prediction

"Molecular complexity of voltage-gated sodium channels; theory and applications in mutation-response prediction"

Ion channels are information transmitters of living cells. Ion channel defects appear in a broad range of diseases including epilepsy, migraine, diabetes, hypertension, cardiac arrhythmia, and neuropathic pain. One of the scopes of biomedical research targeting ion channels is to improve diagnostics and develop therapeutic agents and strategies for counteraction, or at least, management of aforementioned diseases. This dissertation focussed on a specific type of ion channels, namely, on voltage-gated sodium channels (VGSCs), which are known to play a key-role in human pain pathophysiology. Results and findings of this dissertation provide novel insights into how VGSCs remain functionally stable within the cell membrane, as well as, into how genetically-caused defects affecting VGSC structure relate to neuropathic pain disease.