Article

Painless Na <sub>v</sub> 1.7 mutations reveal function-critical residues in the outer vestibule and N-terminus

2025-05-13

Abstract excerpt

Chronic pain is a common condition, placing a large cost on society and a heavy burden on the individual. Na v 1.7 has emerged as a non-redundant and axiomatically important part of human pain pathways. Biallelic loss-of-function (LOF) mutations in SCN9A , encoding voltage-gated sodium channel Na v 1.7, cause the Mendelian disorder Congenital Insensitivity to Pain (CIP). Studying novel missense mutations in thi...

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Literature Corpus work: fc683a58-b6d1-5c44-b77d-f187b584b855
DOI: 10.1101/2025.05.12.653536

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