An observational study in Developmental Dysphasia, Epileptic Encephalopathy, Childhood-Onset and X-Linked Intellectual Disability, sponsored by University of California, San Francisco. Active, not recruiting at 1 site in United States. Open to participants aged 6 Years to 21 Years. Per ClinicalTrials.gov, last updated 2026-07-23.
Sponsored by University of California, San Francisco · Observational
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.
1,848 studies on the registry are indexed under Epilepsy; 422 are open to participants now.
This study's planned enrollment of 20 is below the median of 112 across 540 observational studies indexed under Epilepsy.
Browse Epilepsy studies →University of California, San Francisco is the lead sponsor of 2,169 studies on the registry; 372 are open to participants now.
Of its 267 completed or terminated interventional studies of FDA-regulated products, 202 (76%) have results posted.
Counted across the registry records on this site, refreshed daily.
Children with CNKSR2 pathogenic mutation and characteristic features of CNKSR2 neurodevelopmental disorder and/or epilepsy
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Change from baseline in functional connectivity within the epileptiform network using resting-state functional magnetic resonance imaging (fMRI).
Functional connectivity is unitless.
Time frame: Baseline, Month 12, Month 24
Change from baseline in functional connectivity within the language network using resting-state functional magnetic resonance imaging (fMRI).
Functional connectivity is unitless.
Time frame: Baseline, Month 12, Month 24
Change from baseline in cortical evoked response to self-produced speech as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).
Voxel-wise source reconstructed brain activation assesses localized brain function by mapping neural activity at the voxel level. It is a unitless measure.
Time frame: Baseline, Month 12, Month 24
Change from baseline in cortical evoked response to altered auditory feedback during self-produced speech as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).
Voxel-wise source reconstructed brain activation assesses localized brain function by mapping neural activity at the voxel level. It is a unitless measure.
Time frame: Baseline, Month 12, Month 24
Change from baseline in resting state brain activity as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).
Voxel-wise source reconstructed brain activation assesses localized brain function by mapping neural activity at the voxel level. It is a unitless measure.
Time frame: Baseline, Month 12, Month 24
Change from baseline in resting state background brain activity during sleep as measured by phase lag index using electroencephalography (EEG).
Phase lag index ranges between 0 and 1 and is unitless. A phase lag index of zero indicates either no coupling or coupling with a phase difference centered around 0 mod π.
Time frame: Baseline, Month 12, Month 24
Change from baseline in spike-wave index during sleep as measured by percentage using electroencephalography (EEG).
Spike-wave index is the sum of all spike and slow wave minutes multiplied by 100 and divided by the total non-rapid eye movement sleep minutes.
Time frame: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by Bayley Scales of Infant and Toddler Development, 3rd Edition (BSID-III) scaled scores.
Higher scores indicate a better outcome (minimum score: 1, maximum score: 19).
Time frame: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by the Bayley Scales of Infant and Toddler Development, 3rd Edition (BSID-III) standard scores.
Higher scores indicate a better outcome (minimum score: 45, maximum score: 155).
Time frame: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by the Wechsler Preschool and Primary Scale of Intelligence, 4th Edition (WPPSI-IV) composite scores.
Higher scores indicate a better outcome (minimum score: 40, maximum score: 160).
Time frame: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by the Wechsler Preschool and Primary Scale of Intelligence, 4th Edition (WPPSI-IV) scaled scores.
Higher scores indicate a better outcome (minimum score: 1, maximum score: 19).
Time frame: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by the Wechsler Abbreviated Scale of Intelligence, 2nd Edition (WASI-II) composite scores.
Higher scores indicate a better outcome (minimum score: 40, maximum score: 160).
Time frame: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by the Wechsler Abbreviated Scale of Intelligence, 2nd Edition (WASI-II) T-scores.
Higher scores indicate a better outcome (minimum score: 20, maximum score: 80).
Time frame: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by Parent Report Form of Vineland Adaptive Behavior Scales, 3rd Edition (Vineland-3) Adaptive Behavior Composite score and Domain scores.
Higher scores indicate a better outcome (minimum score: 20, maximum score: 140).
Time frame: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by Parent Report Form of Vineland Adaptive Behavior Scales, 3rd Edition (Vineland-3) V-Scale Scores.
Higher scores indicate a better outcome (minimum score: 1, maximum score: 24).
Time frame: Baseline, Month 12, Month 24
Change from baseline in performance on the Receptive One-Word Picture Vocabulary Test, 4th Edition standard scores.
Higher scores indicate a better outcome (minimum score: \< 55, maximum score: \> 165).
Time frame: Baseline, Month 12, Month 24
Change from baseline in performance on the Expressive One-Word Picture Vocabulary Test, 4th Edition standard scores.
Higher scores indicate a better outcome (minimum score: \< 55, maximum score: \> 165).
Time frame: Baseline, Month 12, Month 24
Change from baseline in ADHD Rating Scale, 4th Edition (ADHD-RS-IV) inattention subscale raw scores.
Lower scores indicate a better outcome (minimum score: 0, maximum score: 9).
Time frame: Baseline, Month 6, Month 12, Month 18, Month 24
Change in hyperactivity as measured by ADHD Rating Scale, 4th Edition (ADHD-RS-IV) hyperactivity subscale raw scores.
Lower scores indicate a better outcome (minimum score: 0, maximum score: 9).
Time frame: Baseline, Month 6, Month 12, Month 18, Month 24
Change in physical functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.
Lower scores indicate a better outcome (minimum score: 0, maximum score: 100).
Time frame: Baseline, Month 6, Month 12, Month 18, Month 24
Change in emotional functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.
Lower scores indicate a better outcome (minimum score: 0, maximum score: 100).
Time frame: Baseline, Month 6, Month 12, Month 18, Month 24
Change in social functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.
Lower scores indicate a better outcome (minimum score: 0, maximum score: 100).
Time frame: Baseline, Month 6, Month 12, Month 18, Month 24
Change in school functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.
Lower scores indicate a better outcome (minimum score: 0, maximum score: 100).
Time frame: Baseline, Month 6, Month 12, Month 18, Month 24
Plan to share: No
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This study is active, not recruiting, as verified in Jul 2026. You cannot join it, but the record below documents what was studied.
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