Table 3.
Movement disorder semiology according to genetic etiology.
| Type of MD | Gene Name |
|---|---|
| HYPERKINETIC MD | |
| Ataxia | FHF1 KCNQ2 SCN8A STXBP1 SLC13A5 |
| Dystonia | AP3B2 CACNA1E DNM1 GABRB2 GNAO1 KCNQ2 PCDH12 RHOBTB2 SCN2A SCN8A STXBP1 WWOX SLC13A5 SYNJ1 |
| Status dystonicus | GNAO1 |
| Stereotypies | AP3B2 CDKL5 FOXG1 KCNQ2 GABRG2 SCN2A SMC1A STXBP1 |
| Tremor | KCNQ2 SCN8A STXBP1 |
| Chorea | CACNA1E GNAO1 KCNQ2 (with fever) RHOBTB2 SCN2A STXBP1 VAMP2 SLC13A5 |
| Choreo-athethosis | GABRA1 STXBP1 SLC13A5 |
| Athethosis | ATP1A3 PCDH12 |
| Dyskinesia | AP3B2 CACNA1E FOXG1 GABRB3 GNAO1 SCN8A STXBP1 SLC13A5 KCNQ2 (myoclonus-like) |
| Akathisia | GNAO1 |
| Myoclonus | CACNA1E GABRA1 GRIA2 KCNQ2 SCN8A STXBP1 WWOX |
| Oculogyric crises | GRIA2 SCN2A |
| Paroxysmal dyskinesia | KCNMA1 RHOBTB2 |
| Episodic ataxia | SCN2A |
| Paroxysmal non-epileptic polymorphous events | ATP1A3 SCN8A |
| Paroxysmal involuntary movements | WWOX |
| Startle/hyperekplexia | GNAO1 SCN8A STXBP1 WWOX |
| HYPOKINETIC MD | |
| Bradykinesia | |
| Hypokinesia | GRIA2 WWOX |
| Hypokinetic-rigid syndrome | STXBP1 |
| UNSPECIFIED | |
| PURA | |