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Table 1 Clinical features of 12 reported patients with GNAO1 encephalopathy

From: GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

Case (ref) Sex Age Age at seizure onset Seizures type at onset Epileptic syndrome Dyskinesia MRI findings Global outcome Epilepsy outcome EEG features Mutation Inheritance
1 (2) F 13y 4d Tonic OS - Normal (1mo), atrophy (5y) Profound GDD Intractable seizures BS, multifocal c.836 T > A (p.Ile279Asn) de novo
2 (2) F 4y 29d Tonic OS - DM, thin corpus callosum (10mo) Profound GDD Intractable seizures BS, HS c.521A > G (p.Asp174Gly) de novo a
3 (2) F Died 11mo 2w Tonic/spasms OS - Normal (3 mo) Profound GDD Intractable seizures BS, HS c.572_592del (p.Thr191_Phe197del) de novo
4 (2) F 8y 7mo Opisthotonic EE + DM (1y), thinning white matter, corpus callosum (4y) Profound GDD Intractable seizures Diffuse SSW discharges c.607G > A (p.Gly203Arg) de novo
5 (3) F 3y 3mo Infantile spasms EE - Mild atrophy Severe to profound GDD Seizure-free since age 5 m HS c.808A > C (p.Asn270His) de novo
6 (3) F 9y 3d Tonic EE-neonatal - DM, thinning of white matter Severe to profound GDD Daily tonic seizures BS, HS c.824 T > C (p.Phe275Ser) de novo
7 (4) F 20mo 2mo Infantile spasms EE + Cerebral atrophy, thin corpus callosum (10mo) Profound GDD Intractable CPS HS, multifocal c.680C > T (p.Ala227Val) de novo
8 (4) F 14mo 7d Tonic-clonic EE-neonatal + Normal (20d), cerebral atrophy, DM (14mo) Profound GDD Intractable CPS SW bursts, migrating focal, multifocal discharges c.607G > A (p.Gly203Arg) de novo
9 (4) F 13y   No seizures - + Normal (4y, 12y) Profound GDD   Normal c.736G > A (p.Glu246Lys) de novo
10 (4) F 18y 10y Complex partial - + Global atrophy, thin corpus callosum (11y, 14y) Severe GDD Complex partial seizures (11y) Normal at 4 years, later diffused low c.625C > T (p.Arg209Cys) de novo
11 (5) F 4y 1mo Myoclonic OS + Asymmetrical subarachnoidal space in temporal regions, myelinization delay in corpus callosum Profound GDD Intractable seizures BS, HS, multifocal c.692A > G (p.Tyr231Cys) de novo
Present report F 20mo 3d Tonic EE-neonatal + DM, thin corpus callosum Profound GDD Seizure-free, ketogenic diet Background slowing, multifocal c.596 T > C (p.Leu199Pro) de novo
  1. OS Ohtahara syndrome, EE epileptic encephalopathy, ID intellectual disability, BS burst-suppression, HS hypsarrhythmia, SSW spike and slow wave, DM delayed myelination, GDD global developmental delay, NA not available, asomatic mosaicism