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 |