Table 1.
Clinical Features of KTS and ROGDI Genotypes in the Affected Individuals
| A-IV:3 | A-IV:4 | B-II:1 | C-XI:2 | |
|---|---|---|---|---|
| ROGDI genotype | homozygous for c.229_230del (p.Leu77Alafs∗64) | homozygous for c.229_230del (p.Leu77Alafs∗64) | homozygous for c.286C>T (p.Gln96∗) | compound heterozygous for c.531+5G>C and c.532-2A>T |
| Age at time of last evaluation | 12 years | 9 years | 18 years | 9 years |
| Growth parameters | mild microcephaly | normal | normal | normal |
| Initial development | normal until onset of seizures | developmental delay since birth | normal until onset of seizures | normal until onset of seizures |
| Language skills and social interaction at time of last evaluation | no expressive language | some words; deterioration of social interaction after onset of seizures | 35 single words and sentences with two words; social and friendly behavior | competent to talk in short and simple sentences |
| Age of walking without support | 4.5 years | 2.2 years | 2.5 years | 2 years |
| Age of seizure onset | 4 months | 12 months | 5 months | 6 months |
| EEG findings (generalized or partial traits) | multifocal epileptic activity and poorly developed background activity | focal epileptic activity and poorly developed background activity | multifocal epileptic activity (later generalized) and abnormal background activity | focal epileptic activity; normalization at 6 years of age |
| Seizure type and frequency | episodes of cyanosis and apnea; later generalized tonic-clonic seizures (1–5 per day); only seizures with fever since start of levetiracetam at 3.5 years of age | mostly myoclonic seizures (1–5 per day); only seizures with fever since start of levetiracetam at 1.8 years of age | focal and generalized seizures (1–5 per day); seizure free since 7 years of age and no medication since 15 years of age | left-sided hemiconvulsive seizures and various anticonvulsants; seizure free without treatment since 6 years of age |
| Hearing | normal | normal | normal | normal |
| Vision | loss of visual fixation after onset of seizures | normal | normal | normal |
| Dentition | eruption of first teeth at 13 months of age; discoloration from the beginning | eruption of first teeth at 14 months of age; lusterless and rapid discoloration | primary and permanent teeth with discoloration and enamel defects | primary and permanent teeth with discoloration and enamel defects |
The following abbreviation is used: EEG, electroencephalography.