KCNQ2-related Epilepsy
Conditions
Keywords
KCNQ2-related epilepsy, Benign familial neonatal seizures, Developmental and epileptic encephalopathy, Genotype-phenotype association, Brain network, Omics study
Brief 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.
Detailed description
1. Participant recruitment: participants are recruited from Chinese KCNQ2-related epilepsy patients group (http://www.kcnq2.cn/). 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.
Interventions
OTHERElectrophysiological 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.
OTHERMulti-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).
OTHEROmics testing
Omics testing include proteomics, metabolomics, transcriptomics.
Sponsors
Fudan University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Establish the phenotype database and genotype-phenotype association of KCNQ2-related Epilepsy | 0-18 years old | Analysis of Clinical information of KCNQ2-related Epilepsy such as phenotype, genotype, brain image ,EEG, living quality and comorbidity. |
| Study on the brain network of KCNQ2-related epilepsy | 0-18 years old | Analysis of brain network of KCNQ2-related epilepsy based on multi-modal brain image and EEG |
| Study on the omics testing of KCNQ2-related epilepsy | 0-18 years old | Analysis of prognostic biomarker of KCNQ2-related epilepsy based on proteomics, metabolomics, transcriptomics. |
Countries
China
Contacts
Primary ContactYi Wang, Dr
Outcome results
None listed