Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Rikke S Møller, Line H G Larsen, Katrine M Johannesen...
https://pubmed.ncbi.nlm.nih.gov/27781031/Actively Recruiting
Led by Children's Hospital of Fudan University · Updated on 2026-03-16
2000
Participants Needed
1
Research Sites
N/A
Total Duration
Researchers are studying genetic diagnosis and treatment strategies for neonates experiencing seizures within the first year of life, focusing particularly on those with seizure onset before one month of age. The study aims to identify genetic variants using next-generation sequencing NGS to better understand the causes and clinical features of neonatal and infant epilepsy. This work supports the development of personalized medicine approaches by comparing genetic and clinical data between groups based on age of seizure onset. The study involves performing genetic sequencing on neonates and infants with severe seizures or intractable epilepsy starting before one year old. The genetic tests focus on genes known to be associated with seizure disorders. The research assesses existing treatments effects while collecting genetic data to inform future individualized therapies. There is no intervention or drug being tested instead, this is an observational study gathering detailed genetic and clinical information. Participants will be monitored from seizure onset through up to six months afterward to evaluate seizure frequency and genetic mutation rates. The study collects data on mutation rates of common seizure genes, with genetic sequencing possibly taking up to three months to complete. Researchers will assess seizure control and treatment responses over six months to improve understanding of neonatal seizure disorders. Participation duration varies based on individual seizure onset and follow-up timing.
CONDITIONS
Etiology and Treatment of Neonatal Seizure
W
Wenhao Zhou, Doctor
L
Lin Yang, Doctor
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Children's Hospital of Fudan University
Lead Sponsor
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Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 3 months
Participants undergo genetic sequencing to detect and quantify genetic variants related to neonatal seizures.
Duration - 6 months from seizure onset
Participants are monitored for seizure outcomes and effectiveness of existing therapeutic strategies over time.
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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Lead Sponsor