Table.
Gene | No. of patients | Already described in literature | Stereotypies | Dystonia | Chorea | Ataxia | Myoclonus | Hypokinesia | Other |
ALG13 | 3 | 1 case22 | 1 | 0 | 2 | 0 | 0 | 0 | Dyskinesia |
ATP1A2 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | Dyskinesia | |
ATP1A3 | 2 | 1 case35 | 1 | 1 | 0 | 1 | 0 | 1 | Paroxysmal MD |
BRAT1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | Tremor | |
CACNA1E | 1 | 0 | 1 | 1 | 0 | 0 | 0 | No | |
CAMK2A | 1 | 0 | 1 | 1 | 0 | 1 | 0 | No | |
CAMK2B | 1 | 1 | 0 | 0 | 0 | 0 | 0 | No | |
CDKL5 | 7 | 7 | 0 | 1 | 1 | 0 | 0 | Tremor, dyskinesia | |
CHD2 | 3 | 2 | 0 | 0 | 0 | 0 | 0 | Tremor | |
DNM1 | 2 | 2 case24 | 2 | 2 | 1 | 0 | 0 | 0 | Eye blinking |
DNM1L | 2 | 0 | 2 | 0 | 0 | 2 | 0 | Spasticity, paroxysmal MD | |
FGF12 | 1 | 1 case36 | 1 | 0 | 0 | 0 | 0 | 0 | Dyskinesia |
FRRS1L | 1 | 0 | 1 | 0 | 1 | 0 | 0 | No | |
GNAO1 | 3 | 3 cases14,22 | 0 | 3 | 3 | 0 | 0 | 0 | Acute dyskinetic exacerbations |
GRIN1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | No | |
HUWE1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | No | |
KCNA2 | 1 | 0 | 0 | 0 | 1 | 1 | 0 | No | |
KCNB1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | No | |
KCNQ2 | 3 | 2 | 0 | 2 | 0 | 1 | 0 | No | |
KCNT1 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | Spasticity | |
LIS1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | Paroxysmal MD | |
MBD5 | 1 | 1 case37 | 1 | 0 | 0 | 0 | 0 | 0 | No |
MECP2 | 4 | 3 | 1 | 0 | 1 | 0 | 0 | Crouch gait | |
MED13 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | No | |
MEF2C | 1 | 1 case17 | 1 | 0 | 0 | 1 | 1 | 0 | No |
PIGA | 2 | 1 case38 | 2 | 1 | 2 | 0 | 0 | 1 | No |
PIGV | 1 | 1 | 0 | 0 | 0 | 1 | 0 | No | |
PLPBP | 1 | 1 | 0 | 0 | 0 | 0 | 0 | No | |
SCN1A | 6 | 2 cases19,20 | 1 | 2 | 1 | 3 | 2 | 0 | Crouch gait, tremor |
SCN2A | 5 | 2 cases21 | 0 | 4 | 0 | 0 | 1 | 1 | Tremor, exaggerated startle, paroxysmal MD |
SCN8A | 2 | 2 cases39 | 0 | 2 | 0 | 0 | 1 | 1 | Spasticity, paroxysmal MD |
SLC2A1 | 2 | 0 | 1 | 0 | 0 | 1 | 0 | Crouch gait, paroxysmal MD | |
SLC35A2 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | No | |
SLC6A1 | 1 | 1 case40 | 1 | 0 | 0 | 0 | 0 | 0 | Stereotypies are tics |
STXBP1 | 7 | 4 cases15-18 | 4 | 3 | 2 | 0 | 1 | 2 | Tremor, dyskinesia |
SYNGAP1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | No | |
UGDH | 1 | 1 | 1 | 0 | 0 | 1 | 0 | Paroxysmal MD |
Abbreviations: DEE = developmental and epileptic encephalopathy; MD = movement disorder.