Table 1.
Features of two mouse models of SCN8A encephalopathy. The N1768D mouse was generated by TALEN knock-in of the first described patient mutation7. The R1872W mouse carries a conditional allele of a recurrent human mutation that leads to lethality in early childhood11. Onset is the age at first observed seizure. Duration is the interval between first observed seizure and death.
| N1768D/+ | R1872W/+ | |
|---|---|---|
| patients | ambulatory, verbal, SUDEP at 15 yrs | nonambulatory, nonverbal |
| ephysiology | impaired inactivation | more severely impaired |
| mouse model: | Knock-in to Scn8a | conditional knock-in |
| onset | 2-4 months | 2 weeks |
| duration, onset to death | 1-2 week | 10 sec to 2 week depends on CRE |
| penetrance | 50-75% | 100% |