Table 3 Summary of Clinical Features.
From: Germline de novo variants in CSNK2B in Chinese patients with epilepsy
Case number | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 |
|---|---|---|---|---|---|---|---|---|---|
Gender | Male | Female | Female | Female | Male | Female | Male | Female | Female |
Age at last follow-up | 6 yrs. 2 mos. | 3 yrs. 5 mos. | 17 mos. | 14 mos. | 1 yr. 8 mos. | 2 yrs. | 2 yrs. | 1 yrs. 3 mos. | 6 mos. |
Perinatal history | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) |
Height (cm) | 105 (<3rd) | 92 (3rd–25th) | 79 (25–50th) | 76 (25–50th) | 82 (25–50th) | 80 (<3th) | 95 (50–75th) | 78 (25–50th) | NA |
Weight (kg) | 18 (50th) (3rd–25th) | 15 (25–50th) | 11 (50–75th) | 11.5 (50–75th) | 12 (50–75th) | 10 (3rd–25th) | 10.5 (3rd–25th) | 11 (50–75th) | 8.5 (50–75th) |
Head circumference (cm) | 48 (3.6 yrs) (3rd–25th) | 49 (50th) | 47 (50–75th) | 46 (50–75th) | 48 (50–75th) | NA | NA | 45 (25–50th) | NA |
Gross motor development | Sitting without support at 1.5 yrs; still cannot walk | Cannot jump with both feet; walking without help at 16.5 mos. | Rolling over at 4 mos.; sitting without help at 1 yr.; still cannot walk without help | Normal | Normal | Normal | Still cannot walk without help | Sitting at 7 mos.; cannot walk without help | Rolling over at 4 mos.; still cannot sit |
Development of speech and language skills | Not acquired | Speak Mom and Dad at 10 mos.; say five to six words at 3 yrs. | Not acquired | Normal | Normal | Normal | Speaking only several words | Cannot speak Mom and Dad | None |
ID/DD | Profound | Mild | Moderate | None | None | None | Mild | Mild | Mild |
Age at seizure onset | 1 yr. | 4 mos. | 5 mos. | 2 mos. | 6 mos. | 6 mos. | 5 mos. | 5 mos. | 3.5 mos. |
Seizure types | Myoclonus, only twice of GTCS | GTCS | GTCS | GTCS | GTCS | GTCS | GTCS | GTCS | GTCS |
Regression of development after seizure onset | None | None | None | None | None | None | None | None | None |
EEG | Diffuse spike-slow, multiple spike-slow, and slow wave discharging; frequent myoclonic seizures | Normal at seizure onset; slow background and occasionally atypical spikes | Normal | Epileptiform discharge in the right anterior temporal and middle temporal regions | Normal | Sharp waves in the frontal, central, middle temporal, and middle line regions | Normal | Normal | Normal |
MRI | Normal | Slightly widen of subarachnoid space at 7 mos. | Poor myelination at 5 mos. | Normal | Normal | Normal | Normal | Normal | Normal |
