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Papers of the Week

2022 Sep 16

Mol Genet Genomic Med

Pain triangle phenomenon in possible association with SCN9A: A case report.


Sopacua M, Hoeijmakers JGJ, van der Kooi AJ, Merkies ISJ, Faber CG
Mol Genet Genomic Med. 2022 Sep 16:e2026.
PMID: 36114697.


Voltage-gated sodium channels are essential for the generation and conduction of electrical impulses in excitable cells. Sodium channel Na 1.7, encoded by the SCN9A-gene, has been of special interest in the last decades because missense gain-of-function mutations have been linked to a spectrum of neuropathic pain conditions, including inherited erythermalgia (IEM), paroxysmal extreme pain disorder (PEPD), and small fiber neuropathy (SFN).