Table 2.
Patient | 1 | 2 | 3 |
---|---|---|---|
KCNC1 variant | p.Arg317His | p.Gln492X | p.Gln492X |
Gender | M | F | M |
Cognitive Function | Mild ID | Mild‐Moderate ID | Mild‐moderate ID |
Seizures | No | No | No |
Dysmorphic Features | Nil | Nil | Nil |
Neurological Features | Autism | Nil | Nil |
MRI | Cerebellar and posterior pontine atrophy | Not performed | Not performed |
EEG | Rare generalized spike‐wave | Not performed | Not performed |