Table 1.
Basic Clinical Data of Our Patient and 3 Patients Described by Nakamura et al3 and 2 Patients by EuroEPINOMICS4 Cohort.
| The Patient of this Study | Individual 13 | Individual 23 | Individual 33 | Individual 4 3 | Individual 54 | Individual 64 | |
|---|---|---|---|---|---|---|---|
| Gender | Female | Female | Female | Female | Female | Female | Female |
| Age | 4 years 9 months | 13 years | 4 years 1 month | Died at 11 month | 8 years | 3 years | 9 years |
| Mutation | c.692A>G (p.Tyr231Cys) | c.836T>A (p.Ile279Asn) | c.521A>G (p.Asp174Gly) | c.572_592del (p.Thr191_Phe197 del) | c.607 G>A (p.Gly203Arg) | c.808>C (p.Asn270His) | c.824T>C (p.Phe278Ser) |
| Inheritance | De novo | De novo | De novo, somatic mosaic | De novo | De novo | De novo | De novo |
| DG | OS | OS | OS | OS | EE | EE | EE |
| Initial symptom | Myoclonic jerks 1 mo | Tonic sz at 4 days | Tonic sz at 29 days | Tonic sz at 2 weeks | Opisthotonic posture | Sz at the age of 3 months | Sz at the age of 3 days |
| Initial EEG | Modified SBP at 3 months | SBP at 4 days | SBP at 29 days | SBP at 2 weeks | Spike and slow wave complex at 5 years | Hypsarrythmia | First EEG normal, later BSP |
| Course of seizures | Spasms, tonic, tonic–clonic, myoclonic sz | Tonic seizures at 5 years | Series of tonic seizures at 9 months | Tonic seizure at 10 months | Focal seizure, tonic sz at 5 years | Sz free since the age of 5 months | Daily tonic sz |
| Course of EEG First EEG at 3 Mo | Hypsarrhythmia in awake BSP in sleep at 7 months; slowing of background activity with multifocal IED at 9 months | Multifocal sharp waves at 1 year, 4 months; SBP at 5 years, 6 months | Hypsarrhythmia at 3 months; diffuse spike and slow wave complex at 1 year 7 months; sharp waves at frontal lobe at 3 years 9 months | Hypsarrhythmia at 4 months | Not done | Slow background no epileptic activity | Hypsarrythmia, multifocal discharges |
| Involuntary movement | Stereotypic spasm-like movements | – | – | Dystonia | Severe chorea, athetosis | – | – |
| Seizure control | Intractable (4-6 times per day) | Intractable (2-3 times per day) | Intractable (0-2 times per day) | Intractable | Intractable (several times per day) | Off the medication | Daily tonic seizures |
Abbreviations: OS, ohtahara syndrome; EE, epileptic encephalopathy; SBP, suppression-burst pattern; sz, seizures; EEG, electroencephalography; IED, interictal epileptiform discharge; BSP, burst-supression pattern; DG, diagnosis.