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Clinical Phenotype and Omics Study of KCNQ2-related Epilepsy

NCT05157737 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2021-12-15

No results posted yet for this study

Summary

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.

Conditions

  • KCNQ2-related Epilepsy

Interventions

OTHER

Electrophysiological detection of KCNQ2 mutation

Electrophysiological detection of KCNQ2 mutation performed using patch clamp technique in an in vitro cell model. Analyze the association between phenotype and genotype.

OTHER

Multi-modal brain image and EEG

Multi-modal brain image include brain magnetic resonance imaging (MRI) or positron emission tomography-computed tomography (PET-CT). The electroencephalogram (EEG) incuding video electroencephalogram (VEEG) and sleep electroencephalogram (SEEG).

OTHER

Omics testing

Omics testing include proteomics, metabolomics, transcriptomics.

Sponsors & Collaborators

  • Fudan University

    lead OTHER

Principal Investigators

  • Yi Wang, Dr · Children's Hospital of Fudan University

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-01-01
Primary Completion
2023-12-31
Completion
2024-12-31

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05157737 on ClinicalTrials.gov