RareTrial

Neurological

KCNQ2-Related Epilepsy

Also known as KCNQ2 channelopathy, KCNQ2 epileptic encephalopathy, benign neonatal epilepsy (mild variant)

KCNQ2-related epilepsy encompasses a spectrum from benign familial neonatal epilepsy to severe KCNQ2 epileptic encephalopathy, caused by mutations in KCNQ2 encoding the Kv7.

ORPHA:439218 ↗Gene KCNQ2Prevalence 1-9 per 100,000 (Orphanet)Onset NeonatalAutosomal dominant genetic (de novo in most severe cases)
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studies recruiting now

as of 7 Sept 2026

1

studies registered in total

as of 7 Sept 2026

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as of 7 Sept 2026

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1 study is registered for KCNQ2-Related Epilepsy, but none was recruiting as of 7 Sept 2026. Here is what is still worth doing.

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Patient organisations

KCNQ2 Cure AlliancePatient association
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Registry: KCNQ2 Cure Alliance Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.

NORD ↗GARD ↗Orphanet ORPHA:439218 ↗

About KCNQ2-Related Epilepsy

KCNQ2-related epilepsy encompasses a spectrum from benign familial neonatal epilepsy to severe KCNQ2 epileptic encephalopathy, caused by mutations in KCNQ2 encoding the Kv7.2 potassium channel subunit. The severe encephalopathic form (de novo mutations) presents in the first days of life with tonic seizures, EEG burst-suppression pattern, and later neurodevelopmental impairment. Ezogabine (retigabine) directly opens Kv7.2 channels; sodium channel blockers and carbamazepine are often effective.

Common clinical features

Neonatal tonic seizuresBurst-suppression EEG patternHypotoniaDevelopmental delay and intellectual disabilityMovement disorderVisual abnormalitiesAbsent speech

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Before you apply

Things trial teams commonly ask about for KCNQ2-Related Epilepsy. Not eligibility rules; those are set by each study.

  • KCNQ2 pathogenic variant class (gain-of-function versus loss-of-function) determines treatment approach and trial eligibility for targeted therapies
  • EEG documentation of neonatal seizures and burst-suppression pattern is required for severe encephalopathy trials
  • Carbamazepine or phenobarbital response in the neonatal period is important history — document efficacy and tolerability
  • Gene therapy and channel opener (Kv7.2 activator) trials require no prior investigational KCNQ2-targeted treatment

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Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).