Can mapping a rare Gene's effects pave the way to targeted epilepsy therapies?

NCT ID NCT06500260

First seen Jul 23, 2026 · Last updated Jul 24, 2026 · Updated 1 time

Summary

This study follows children aged 6 to 21 who have a CNKSR2 gene mutation, which can cause epilepsy, language difficulties, and intellectual disability. Researchers will use brain scans, EEGs, and developmental tests to track how the condition changes over time. The goal is to create a detailed picture of the disorder that could serve as a baseline for future trials of precision medicines.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to
If this study maps the typical course of CNKSR2-related epilepsy and developmental delays, it could help design future precision treatments for this rare condition.
What could go wrong
This is an observational study with no treatment being tested. It will not directly improve symptoms, and results may take years to inform therapy development.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • University of California, San Francisco (UCSF)

    San Francisco, California, 94158, United States

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Other studies related to the condition(s) this trial covers.