Table 1 Phenotypes of the affected in these families
Patient | Proband I | Proband II | Proband I Mother |
|---|---|---|---|
CNKSR2variant | c.1658-3_1676del | c.1102G > T, p.Gly368* | Unknown |
Age | 9 | 6 | 35 |
EEG | CSWS* | CSWS* | Unknown |
MRI | The right fissure was slightly wider than the left and the right temporal lobe was slightly underdeveloped | Normal | Unknown |
Epilepsy | Onset at age 3 | Onset at age 4 | None |
Speech delay | No speech | Language expression and comprehension were below average and speech was slurred | None |
Cognition and behavior | Motor development delay | Severe delays in adaptive functioning, fine motor skills | Intelligence is lower than normal |