Table 1.
Summary of clinical data
| Patient gender | Mutation | Motor development | Cognition and speech | Seizures | OFC | Behaviour | Eye movements |
|---|---|---|---|---|---|---|---|
| UW168-3 F | TUBA1A c.645G>A (p.R214H) | 4yr 3m sitting, not crawling | Few single words at 4yr 3m | ‘Startle sz’ and ‘absence sz’ | <−2.5 SD | NA | Roving eye movements |
| UW167-3 F | TUBA1A c.655A>G (p.I219V) | 10yr walks with assistance, ataxia | No speech | IS, recurrence of sz 4yr | 0 SD | NA | Wandering gaze, nystagmoid movements; greatly improved (11yr) |
| UW169-3 F | TUBB2B c.38G>C (p.G13A) | NA | NA | No (11yr) | −4 SD | Asperger's, ADHD, temper tantrums | Strabismus |
| UW169-4 F | TUBB2B c.38G>C (p.G13A) | NA | NA | No (5yr) | −4 SD | ADHD symptoms, temper tantrums | Strabismus |
| UW164-3 M | TUBB3 c.1070C>T (p.P357L) | Sitting 14m, walking 28m, no pincer grasp 5yr | First word 14m IQ ‘low end of normal’, dysarthric 5yr | Partial complex | +3 SD | ADHD-like | OMA, strabismus |
| UW165-3 F | TUBB3 c.1070C>T (p.P357L) | Hypotonia, sitting 10m, walking 26m | First words 18m, normal speech 2yr 6m | No | 0 SD | Normal | OMA, abnormal saccades |
| UW170-3 M | TUBB3 c.862G>A (p.E288K) | Hypotonia, sitting if placed in position at 13m | No words 14m | No | −2 SD | NA | Mild OMA, strabismus |
| UW161-3 F | Not tested | Sitting 12m, walking 34m | NA | No (9yr) | +2 SD | Temper tantrums | OMA |
| UW166-3 F | No | 28m: drools, rolls front to back | No words 28m | sz partially responsive to AED (28m) | −3.2 SD | Normal | Abnormal saccades disconjugate gaze |
| UW146-3 M | No | Sitting 10m, walking 26m | 10 words and 10 signs 2yr 2m | No | +0.5 SD | Temper tantrums (2yr) | Nystagmus, bilateral ptosis, strabismus |
ADHD, attention deficit hyperactivity disorder; OMA, oculomotor apraxia; IS, infantile spasms; yr, year(s); m, month(s); NA, not assessed; SD, standard deviation; sz, seizures.