TABLE 2.
Functional abnormalities of ADSHE‐mutant nAChRs
| Gene | CRHNA4 | CRHNB2 | |||
|---|---|---|---|---|---|
| Mutation (aminoacid change) | c.839C > T (S280F) | c.870_872dupGCT (L291dup: insL) | c.851C > T (S284L) | c.859G > C (V287L) | |
| Cell type | Xenopus oocyte | Xenopus oocyte | Xenopus oocyte | HEK293 | Xenopus oocyte |
| ACh sensitivity | Enhanced | Enhanced | Enhanced | Enhanced | Enhanced |
| Desensitisation | Enhanced | No | Enhanced | Reduced | Enhanced |
| Use‐dependent potentiation | Enhanced | Enhanced | No | ||
| Ca2+ permeability | Reduced | Reduced | No | No | Reduced |
| Ca2+ dependency | Reduced | Reduced | Reduced | Reduced | Reduced |
| CBZ sensitivity (IC50: μM) (wild: 140 μM) | Enhanced (51 μM) | Enhanced (66 μM) | Reduced (296 μM) | ||
| Reference IC50 of CBZ to wild‐type α4β2‐nAChR[1] | [2–9] | [2–4, 8–10] | [3, 8–11] | [12] | [8] |
References: 1. Picard et al. (1999); 2. Figl et al. (1998); 3. Bertrand et al. (2002); 4. Bertrand et al. (1998); 5. Weiland et al. (1996); 6. Kuryatov et al. (1997); 7. Moulard et al. (2001); 8. Rodrigues‐Pinguet et al. (2003); 9. Rodrigues‐Pinguet et al. (2005); 10. Steinlein et al. (1997); 11. Matsushima et al. (2002); 12. De Fusco et al. (2000).