Table 1 Clinical sample
From: Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening
AEP with macrocephaly | AEP without macrocephaly | ASD “simplex” with macrocephaly | ASD “simplex” without macrocephaly | |
|---|---|---|---|---|
Sample size | 25 | 25 | 6 | 25 |
Gender | ||||
- M | 20 (80%) | 21 (84%) | 4 (66.7%) | 24 (96%) |
- F | 5 (20%) | 4 (16%) | 2 (33.3%) | 1 (4%) |
Age (years) | ||||
- range | 2.9-20.8 | 4.0-15.7 | 3.0–9.9 | 2.4–10.0 |
– mean; SD | 9.7; 5.2 | 7.6; 3.0 | 5.3; 2.4 | 5.2; 1.8 |
AEP subtype: | ||||
– Seizures | 13 (52%) | 13 (52%) | – | – |
– EEG abnormalities without seizures | 12 (48%) | 12 (48%) | – | – |
Age at seizure onset | ||||
–range | 3.0–17.9 | 0.4–15 | – | – |
–mean; SD | 9.2; 4.9 | 4.5; 4.4 | – | – |
Type of seizures | ||||
–Focal | 10/13 (76.9%) | 7/13 (53.8%) | – | – |
–Generalized | 3/13 (23.1%) | 4/13 (30.8%) | – | – |
–Spasms | – | 2/13 (15.4%) | – | – |
Type of EEG abnormalities | ||||
–Focal | 15/22 (68.2%) | 14/23 (60.9%) | – | – |
–Multifocal | 6/22 (27.3%) | 9/23 (39.1%) | – | – |
–Diffuse | 1/22 (4.5%) | – | – | – |