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Table 1 Clinical Features of subjects with ABAT Deficiency

From: Personalized medicine approach confirms a milder case of ABAT deficiency

  Family 1   Family 2   Family 3 Family 4
Subject 1 Subject 2 Subject 3 Subject 4 Subject 5 Subject 6 Subject 7
  ABAT Variants c.454C>T, p.Pro152Ser ; c.1393G>C, p.Gly465Arg c.631C>T, p.Leu211Phe ; c.631C>T, p.Leu211Phe c.659G>A,p.Arg220Lys ; c.1433T>C, p.Leu478Pro c.275G>A, p.Arg92Gln ; c.199-?_316+?del, p.Asn67ValfsTer8
Gender M F M F F M F
Age at last follow-up 2 yr 7 yr 5 yr 1 yr 2 12 months 7 yr
Current age 2 yr deceased 7 yr deceased deceased deceased -
Age of clinical presentation 6 mo 3 mo 2 mo 2 mo birth birth 7 mo
Age at death - 7 yr - 1 yr 2 yr 12 mo -
Ophthalmologic Cortical visual impairment No Yes Yes Yes NA NA NA
Optic nerve atrophy No Yes Yes Yes NA NA NA
Developmental Milestones Global developmental delays Yes Severe Severe Severe Severe Severe Severe
Hold up head 2 years No No No No No No
Roll over 9 mo No No No No No No
Sit up 12 mo (c assistance) No No No No No No
Ambulation No No No No No No No
Expressive language coos/babbles No No No No No No
Neurologic Hypotonia Yes Yes Yes Yes Yes Yes Yes
Abnormal movements Yes No No No No No No
Hypersomnia Yes Yes Yes Yes Yes Yes Yes
Seizures, age of onset No 3 mo 4 mo 4 mo birth birth 7 mo
Seizures, controlled by medication - No No No No No No
EEG multi-focal spikes, diffuse slowing Hypsarrhythmia at 3 mo Normal at 3 mo, Hypsarrhythmia at 6 mo Normal at 3 mo, Hypsarrhythmia at 6 mo multi-focal spikes, diffuse slowing multi-focal spikes, diffuse slowing spike-wave, diffuse slowing
Cranial MRI Atrophy No Yes Yes Yes - - Yes
Decreased white matter No Yes Yes Yes - - Yes
Hypomyelination Yes Yes Yes Yes - - Yes
Metabolic GABA levels Elevated in CSF Elevated by brain MRS Elevated by brain MRS Elevated by brain MRS Elevated in CSF - Elevated by brain MRS
  1. Family 1 this manuscript
  2. Family 2 Besse et al 2015 [1]
  3. Family 3 Jaeken et al 1984 [3]
  4. Family 4 Tsuji et al 2010 [2]