Clinical trial
A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy
Name
CHFudanU_NNICU12
Description
The researchers hope to explore the etiological distribution and influencing factors of KCNQ2-related neonatal convulsions or refractory epileptic encephalopathy, and to improve the level of assessment, identification, intervention and shunt of KCNQ2-related convulsions. To formulate countermeasures and measures for prevention, management and health education.
Trial arms
Trial start
2017-01-01
Estimated PCD
2023-12-01
Trial end
2023-12-01
Status
Recruiting
Treatment
KCNQ2
The researchers extracted DNA from the baby's serum and sent it to WES to get the baby's total exon sequence.
Arms:
infants with seizure with KCNQ2 gene mutation.
Size
100
Primary endpoint
Incidence of seizure in children with KCNQ2 within 28 days of age
From birth to under 28 days of age
Eligibility criteria
Inclusion Criteria:
* Primary or initial convulsion
* Postnatal age \<28 days.
* Seizure in the neonatal period
* Informed consent of parents
Exclusion Criteria:
* Seizure caused by congenital cerebral hypoplasia or multiple structural malformations.
* Seizure caused by other system-related syndromes.
* Seizure caused by perinatal or postpartum factors such as HIE, infection, intracranial hemorrhage, etc.
Protocol
{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'COHORT', 'timePerspective': 'PROSPECTIVE'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': "The researchers retained the neonates' or infants' 2ml serum as a biological sample for the Whole Exon Sequencing."}, 'enrollmentInfo': {'count': 100, 'type': 'ESTIMATED'}}
Updated at
2023-09-21
1 organization
Organization
Children's Hospital of Fudan University