Table 1. Clinical Features of ASD patients with rare mutations in CACNB2.
| Description | Patient 1 | Patient 2 | Patient 3 |
| (AU062603) | (AU1338304) | (AU066204) | |
| Mutations | c.334G>A | c.425C>T | c.553T>C |
| (# NM_201597.2) | p.G167S | p.S197F | p.F240L |
| Genotype | +– | +– | +– |
| Gender | M | M | F |
| Epilepsy | Yes | Unknown | No |
| Type | Complex partial | – | – |
| Autism | |||
| ADI-R | Autism | Autism | Autism |
| ADOS | Autism | Autism | Autism |
| Brain Imaging | |||
| MRI | normal | Unknown | Normal |
ADI-R, Autism Diagnostic Interview-Revised; ADOS, Diagnostic Observation Schedule-Generic; MRI, magnetic resonance imaging.