Description
Inclusion Criteria:
- 1. Age between 6 and 21 years (inclusive) at time of consent.
- 2. Confirmed CNKSR2 mutation, as demonstrated by genetic testing and confirmed by the investigators.
- 3. Confirmed intellectual disability or developmental delays, as defined by the American Academy of Pediatrics (Moeschler, J, et al. 2014).
Exclusion Criteria:
- 1. Known pathogenic or clinically suspected mutation in a seizure-associated gene besides CNKSR2.
- 2. Confirmed mutation in a gene besides CNKSR2 that is known to increase the severity of the seizure phenotype.
- 3. Known central nervous system structural abnormality confirmed by imaging scan of the brain that is not consistent with the clinical phenotype of CNKSR2 EAS / ID.
Ages Eligible for Study:
6 Years to 21 Years (CHILD, ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers:
No