Tableau I.
Mutations localisées au sein d’un VSD et associées au développement d’une canalopathie. HypoPP : paralysie périodique hypokaliémique ; normoPP : paralysie périodique normokaliémique ; PP : paralysie périodique ; DCM : cardiomyopathie dilatée associée à diverses arythmies ; FHM : migraine hémiplégique familiale ; PNH : hyperexcitabilité nerveuse périphérique.
| Canal ionique | Mutation | Localisation | Pathologie associée |
|---|---|---|---|
| Nav1.1 | R859C | R1, S4/DII | Épilepsie |
| R865G | R3, S4/DII | ||
| Nav1.2 | R223Q | R3, S4/DI | Épilepsie |
| R1312T | R4, S4/DIII | ||
| R1319Q | R6, S4/DIII | ||
| Nav1.4 | R222Q/W | R2, S4/DI | |
| R669H | R1, S4/DII | ||
| R672H/G/S/C | R2, S4/DII | ||
| R1129Q | R1, S4/DIII | HypoPP | |
| R1132Q | R2, S4/DIII | ||
| R1135H/C | R3, S4/DIII | ||
| D1420G | S3/DIV | ||
| R675G/Q/W | R3, S4/DII | NormoPP | |
| R225W | R3, S4/DI | PP | |
| Nav1.5 | I141V | S1/DI | DCM |
| S216L | R0, S4/DI | ||
| R219H | R1, S4/DI | ||
| T220I | S4, DI | ||
| R222Q | R2, S4/DI | ||
| R225W | R3, S4/DI | ||
| R814W/Q | R3, S4/DII | ||
| D1275N | S3/DIII | ||
| V1279I | S3/DIII | ||
| D1595H | S3/DIV | ||
| Nav1.9 | R225C | R2, S4/DI | Douleur |
| Cav1.1 | R528H/G | R1, S4/DII | HypoPP |
| R897S | R1, S4/DIII | ||
| R900S | R2, S4/DIII | ||
| R1239H/G | R2, S4/DIV | ||
| R1242G | R3, S4/DIV | NormoPP | |
| R174W | R4, S4/DI | Hyperthermie maligne | |
| Cav2.1 | R192Q | R0, S4/DI | FHM |
| R195Q | R1, S4/DI | ||
| R583Q | R1, S4/DII | ||
| R1346Q | R1, S4/DIII | ||
| R1661H | R1, S4/DIV | ||
| R1664Q | R2, S4/DIV | ||
| R1667W | R3, S4/DIV | ||
| Kv3.1 | R320H | R4, S4 | PNH |
| Kv3.3 | R420H | R3, S4 | Ataxie |
| R423H | R4, S4 | ||
| Kv7.2 | R207W/Q | R4, S4 | PNH |
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