CNKSR2 Natural History Study

Launched by UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · Jul 11, 2024

Keywords

ClinConnect Summary

The CNKSR2 Natural History Study is a research project designed to better understand CNKSR2 epilepsy aphasia syndrome (EAS) and intellectual disability (ID) in children and young adults aged 6 to 21 who have specific genetic mutations. This study aims to gather important information about the symptoms and challenges these individuals face, including their seizures, learning abilities, and behavior. The data collected will help researchers create new treatments in the future that could improve the quality of life for those affected by this condition.

To participate, individuals must be between 6 and 21 years old and have a confirmed CNKSR2 mutation, along with evidence of intellectual disability or developmental delays. However, those with certain other genetic mutations or brain abnormalities that could complicate the study are not eligible. Participants can expect to contribute to valuable research that may lead to better therapies down the line, while also receiving support and guidance throughout the study process.

Gender

ALL

Eligibility criteria

• 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.