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Table 1 Clinical features of six patients with GNAO1 variants

From: Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis

  Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Patient 6
Sex, age Female, 16.9 y Male, 7.2 y Male, 3.3 y Female, 8.8 y Female, 7.7 y Male, 4.0 y
Genotype       
Variant
Inheritance
Reference
p.Ala338del
de novo
novel
p.Glu246Lys
de novo
Saitsu et al. 2016
p.Ala301del
de novo
novel
p.Ala227Val
De novo
Saitsu 2016
p.Arg209His
Maternal mosaicism
Kulkani 2016
p.Arg206Leu
de novo
novel
Onset age 6.3y 3 m 3 m Since birth 3 m 34 m
Initial symptom Clumsiness on hands Hypotonia Hypotonia Hypotonia Hypotonia Developmental delay
Motor development Walk alone (18 m) No achievement
(near bed-ridden)
Sit up Unsteady gait (4 y)
No progression
Unsteady gait (5.8 y)
Then regressed
Unsteady gait (2 y)
No progression
Language development Sentences
Intellectual disability
No achievement 2 words 2 words 50 words,
Then regressed
2 words
Epilepsy (onset) age) No No No Focal epilepsy
(6Y)
No No
EEG findings Normal Normal Normal Focal spikes Normal Normal
Movement disorder (onset age) Myoclonus,
focal dystonia
(10Y)
Severe chorea
Focal dystonia
(2Y)
No Hand stereotypi
(NA)
Orofacial dyskinesia
Chorea
Focal dystonia
(around 1Y)
Focal dystonia
(2Y)
Others Spasticity
Scoliosis
Difficulties on fine motor function
Progressive generalized spasticity Progressive spasticity (lower extremity dominant) Progressive spasticity Ataxia
Brain MRI (performed age) Normal (14 y) Atrophy of bilateral head of caudate nucleus (6 y) Normal (2.5 y) Normal (6 Y) Normal (5 y) Normal (2.5 y)
  1. y, years; m, months