Table 1 Primary clinical characteristics observed in individuals with a pathogenic variant, P212L, in CAMK2A.
Kury et al. (2017) individual 1 | Kury et al. (2017) individual 2 | Kury et al. (2017) individual 3 | Fujii et al. (2022) individual 4 | |
|---|---|---|---|---|
CAMK2A mutation | Pro212Leu | Pro212Leu | Pro212Leu | Pro212Leu |
Sex | male | male | female | female |
Mutation origin | de novo | de novo | de novo | de novo |
Intellectual disability | severe | mild to severe | moderate | moderate |
Language development delay | + | + | + | + |
Motor development delay | + | + | + | + |
Abnormal behavior | - | hyperactivity, autistic features | aggressive, hyperactive | ASD/ADHD/DCD |
Seizures | + | + | - | - |
