UnknownNot Applicable

Clinical Phenotype and Omics Study of KCNQ2-related Epilepsy

China200 participantsStarted 2021-01-01

Plain-language 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.

Who can participate

Age range18 Years

SexALL

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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

What they're measuring

Establish the phenotype database and genotype-phenotype association of KCNQ2-related Epilepsy

Timeframe: 0-18 years old

Study on the brain network of KCNQ2-related epilepsy

Timeframe: 0-18 years old

Study on the omics testing of KCNQ2-related epilepsy

Timeframe: 0-18 years old

Trial details

NCT IDNCT05157737

SponsorFudan University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2023-12-31

Contact for this trial

Yi Wang, Dr

13564766228 yiwang@shmu.edu.cn

View on ClinicalTrials.gov More KCNQ2-related Epilepsy trials