Table 2.
The clinical and genetic characteristic of patients with PNKD
| Genes | PIGN | KCNMA1 | |||
|---|---|---|---|---|---|
| Current case | Case 1 [18] | Case 2 [18] | Case 3a | Family cases [17] | |
| Sex | Female | Male | Male | Male | 10 male, 6 female |
| Perinatal | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable |
| Family | Negative | Negative | Negative | Negative | Inherited |
| Age of onset | 10 days (PNKD) | 20 days (PNKD) | 7 months (PNKD) | 13 months (PNKD) | 6 months -15 years |
| Triggers | No | No | No | No | Undefined (Alcohol?) |
| Development milestones | Severe delay | Severe delay | Mild delay | Mild delay | NA |
| Diagnosis | DEE + PNKD | PNKD (till 3.5 year of age) | PNKD (till 7 year of age) | No (till 5.7 year of age) | Epilepsy and/or PNKD |
| Effective medicine | Levetiracetam and clonazepam | No response to oxcarbazepine, valproate and levetiracetam | Clonazepam | Clonazepam | NA |
| Genetic data | |||||
| cDNA | 163C > T; 283C > T (NM_176787) | 2650G > A (NM_1161352) | 3158A > G (NM_1161352) | 3158A > G (NM_1161352) | 1301A > G (NM_1161352) |
| Protein | R55X; R95W | E884K | N1053S | N1053S | D434G |
| Inheritance manner | Autosomal recessive (inherited) | Autosomal dominant (de novo) | Autosomal dominant (de novo) | Autosomal dominant (de novo) | Autosomal dominant (inherited) |
aThis case was published in Chinese by our team
DEE Developmental epileptic encephalopathy, PNKD Paroxysmal nonkinesigenic dyskinesia, NA Not available