Review Article
Mutations in Sodium Channel Gene SCN9A and the Pain Perception Disorders
Table 1
Pain disorders and their characteristics.
| Disorder | IEM | PEPD | CIP |
| Inheritance | AD | AD | AR |
| Channel function | Increased | Increased | Absent |
| Symptoms | Painful feet and hands (burning) as the response to heat and movement | Burning in rectal, ocular, and mandibular region, skin redness | No pain feeling at all |
| Most frequent SNPs | F1449V, L858F, L858H A863P, S241T, N395K, I136V, V1316A, G616R, G856D, I848T, I234T, and F216S | M1627K | S459X, I767X, W897X, M899I, and M932L |
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