Table.
Characteristics of the patients
| CASE ID | AGE (years) | MOTOR DELAY | LANGUAGE DELAY |
MOVEMENT ONSET (months) |
DEVELOPMENTAL REGRESION |
CONTINUOUS MOVEMENTS |
PNKD | PKD | PED | PND | INTERICTAL EEG | ICTAL EEG | AXIAL HYPOTONIA |
LIMB HYPERTONIA |
PYRAMIDAL SIGNS1 |
DYSTONIA | MYOCLONUS | CHOREA | TREMOR | PAIN WITH DYSKINESIA |
MUTATION |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 8 | Y | Y | 15 | Y | Y | Y | Y | Y | Y | ab2 | nl | Y | Y | Y | Y | Y | Y | N | Y | p.R418W (c.1252C>T) |
| 2 | 22 | Y | N | 14 | N | Y | Y | N | N | N | nl | nd | Y | N | N | N | Y | Y | N | N | p.R418Q (c.1253G>A) |
| 3 | 37 | N | N | 12 | N | Y | N | N | N | Y | nl | nd | Y | N | N | Y | Y | Y | N | N | p.R418W (c.1252C>T) |
| 4 | 34 | N | N | 24 | N | Y | Y | N | Y | N | nd | nd | Y | N | N | Y | N | N | Y | N | p.R438P (c.1313G>C) |
PNKD – Paroxysmal Nonkinesigenic Dyskinesia; PKD – Paroxysmal Kinesigenic Dyskinesia; PED – Paroxysmal Exercise Induced Dyskinesia; PND – Paroxysmal Nighttime Dyskinesia; N – not present; Y – present; nd – not done; ab – abnormal; nl - normal.
1
Pyramidal Signs = hyperreflexia and or extensor plantar reflex.
2
Routine EEG was normal during sleep and waking. Video EEG at 3 years 9 months showed no epileptiform discharges associated with multiple paroxysmal choreiform/myoclonic spells during waking. During early drowsiness there were two brief bursts of hypnagogic irregular atypical spike wave discharges without associated movement.