Clinical Phenotype and Omics Study of KCNQ2-related Epilepsy

  • End date
    Dec 31, 2024
  • participants needed
  • sponsor
    Fudan University
Updated on 27 December 2021
Accepts healthy volunteers


The aims of study on KCNQ2-related epilepsy: (1) establish phenotype database and sample database of KCNQ2-related epilepsy; (2) to establish genotype-phenotype association of KCNQ2-related epilepsy; (3) to study the brain network of KCNQ2-related epilepsy based on multi-modal brain image and EEG data; (4) to find prognostic biomarkers of KCNQ2-related epilepsy based on omics study.


  1. Participant recruitment: participants are recruited from Chinese KCNQ2-related epilepsy patients group ( According to the clinical phenotype, the participants will be divided into benign familial neonatal seizures (BFNS) group and Developmental and epileptic encephalopathy (DEE) group.
  2. Genotype-phenotype association: electrophysiological detection of KCNQ2 mutation will be performed using patch clamp technique in an in vitro cell model. The association between phenotype (such as epileptic phenotype, developmental assessment and drug response) and genotype will be analyzed.
  3. Brain network analysis: participants who provide informed consent will be scaned by brain magnetic resonance imaging (MRI) or positron emission tomography-computed tomography (PET-CT) and monitored by the electroencephalogram (EEG). The Brain Network of KCNQ2-related epilepsy will be analyzed based on multi-modal brain image and EEG between BFNS and DEE group.
  4. Omics Study: after informed consent, blood, urine and feces samples of participants will be taken. The samples were tested for omics study including proteomics, metabolomics, transcriptomics, to analysis the difference of BFNS and DEE group.

Condition KCNQ2-related Epilepsy
Treatment Electrophysiological detection of KCNQ2 mutation, Multi-modal brain image and EEG, Omics testing
Clinical Study IdentifierNCT05157737
SponsorFudan University
Last Modified on27 December 2021


Yes No Not Sure

Inclusion Criteria

KCNQ2 mutation was confirmed by WES, Panel and other gene tests
Clinically diagnosed as epilepsy
KCNQ2 mutation was identified as pathogenic or possibly pathogenic according to ACMG pathogenicity rating standard
Age and gender are not limited
No abnormal birth history
Informed consent and willingness to follow up

Exclusion Criteria

Patients with KCNQ2 mutation without epilepsy
Other possible pathogenic gene mutations except KCNQ2
Large cross-gene deletions or duplications including KCNQ2
Unable to participate in the study follow-up
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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