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. 2023 Nov 7;101(19):e1884–e1892. doi: 10.1212/WNL.0000000000207808

Table.

Type of Movement Disorders in 77 Patients With Genetic DEEs

graphic file with name WNL-2023-001996t1.jpg

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.