New gene test could unlock mysteries of severe epilepsy in kids

NCT ID NCT03652246

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tested whether a powerful genetic test called exome sequencing can find the cause of severe epilepsy in children when standard tests fail. Researchers studied 15 children with epileptic encephalopathy of unknown genetic origin. The goal was to see if this test could improve diagnosis and help families get better genetic counseling.

What this could mean

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

Active substance

high-throughput exome sequencing

What this could lead to

If successful, this approach could become a routine diagnostic tool, helping more families get a clear genetic diagnosis and better counseling.

What could go wrong

This is a very small pilot study with only 15 participants, so results may not apply broadly. The technique may not find a cause in all cases.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

developmental and epileptic encephalopathy undetermined early-onset epileptic encephalopathy

As listed by the trial registrant

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

Contacts and locations

Locations

  • Chu Dijon Bourogne

    Dijon, 21000, France