RECRUITING

CNKSR2 Natural History Study

Description

This prospective natural history study is being conducted to define the electroclinical, neurodevelopmental, and behavioral characteristics of CNKSR2 epilepsy aphasia syndrome (EAS) and intellectual disability (ID) in children aged 6 to 21 years old with CNKSR2 mutations. The data collected from this study will serve as an external control to eventual clinical trials examining precision medicine investigational therapeutics that aim to improve the seizure burden and neurodevelopmental outcomes in patients with CNKSR2 EAS/ID.

Conditions

Developmental DysphasiaEpileptic Encephalopathy, Childhood-OnsetX-Linked Intellectual Disability
Talk to us

Related Conditions:

Developmental DysphasiaEpileptic Encephalopathy, Childhood-OnsetX-Linked Intellectual Disability

Study Overview

On this page

Study Details

Study overview

This prospective natural history study is being conducted to define the electroclinical, neurodevelopmental, and behavioral characteristics of CNKSR2 epilepsy aphasia syndrome (EAS) and intellectual disability (ID) in children aged 6 to 21 years old with CNKSR2 mutations. The data collected from this study will serve as an external control to eventual clinical trials examining precision medicine investigational therapeutics that aim to improve the seizure burden and neurodevelopmental outcomes in patients with CNKSR2 EAS/ID.

Natural History Study of Infants and Children With CNKSR2-Associated Neurodevelopmental Disorders and Epilepsy

CNKSR2 Natural History Study

Condition
Developmental Dysphasia
Intervention / Treatment

-

Contacts and Locations

San Francisco

University of California, San Francisco (UCSF), San Francisco, California, United States, 94158

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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).
  • 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

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of California, San Francisco,

Alex Fay, MD, PhD, PRINCIPAL_INVESTIGATOR, alexander.fay@ucsf.edu

Study Record Dates

2025-12-31