An observational study in KCNQ2-related Epilepsy, sponsored by Fudan University. Status unknown at 1 site in China. Open to participants aged Up to 18 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2021-12-15.
Sponsored by Fudan University · Observational
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.
1,805 studies on the registry are indexed under Epilepsy; 417 are open to participants now.
This study's planned enrollment of 200 is above the median of 102 across 521 observational studies indexed under Epilepsy.
Browse Epilepsy studies →Fudan University is the lead sponsor of 1,270 studies on the registry; 623 are open to participants now.
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The patients of KCNQ2-related epilepsy who meet the clinical and genetic diagnosis criteria.
Exclusion Criteria:
(1) Epileptic seizure in neonatal period; (2) Epileptic seizure duration is short, which under spontaneous control in 4\~6 months; (3) The patient was in normal state of feeding, physical examination and psychomotor development; (4) There were no signs of hypsarrhythmia or burst suppression in EEG.
Other: Electrophysiological detection of KCNQ2 mutation · Other: Multi-modal brain image and EEG · Other: Omics testing
(1) Epileptic seizures occur within a week after birth and recur frequently; (2) Epilepsy is refractory; (3) Feeding difficulties, accompanied by moderate to severe mental retardation and psychomotor retardation; (4) The EEG showed hypsarrhythmia or burst suppression.
Other: Electrophysiological detection of KCNQ2 mutation · Other: Multi-modal brain image and EEG · Other: Omics testing
Electrophysiological detection of KCNQ2 mutation performed using patch clamp technique in an in vitro cell model. Analyze the association between phenotype and genotype.
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).
Omics testing include proteomics, metabolomics, transcriptomics.
Establish the phenotype database and genotype-phenotype association of KCNQ2-related Epilepsy
Analysis of Clinical information of KCNQ2-related Epilepsy such as phenotype, genotype, brain image ,EEG, living quality and comorbidity.
Time frame: 0-18 years old
Study on the brain network of KCNQ2-related epilepsy
Analysis of brain network of KCNQ2-related epilepsy based on multi-modal brain image and EEG
Time frame: 0-18 years old
Study on the omics testing of KCNQ2-related epilepsy
Analysis of prognostic biomarker of KCNQ2-related epilepsy based on proteomics, metabolomics, transcriptomics.
Time frame: 0-18 years old
This study is status unknown, as verified in Dec 2021. You cannot join it, but the record below documents what was studied.
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Fudan University