Seizure Disorder, Seizure Generalized, Seizure Newborn, Seizures
Conditions
Keywords
seizure
Brief summary
Genetic diagnosis for neonates suffering from epilepsy has important implications for treatment, prognosis, and development of precision medicine strategies. Investigator performed exome sequencing (ES) or targeted sequencing on neonates with seizure onset within the first month of life. Investigator subgrouped our patients based on the onset age of seizure into neonatal and before 1 year (1-12 months), to compare the clinical and genetic features and treatment strategies.
Detailed description
Seizure is one of the most common neurological conditions in neonates, and has substantial impact on patients'quality of life and social integration. Epileptic encephalopathy is characterized by refractory seizures, cognitive dysfunction, and poor prognosis. Despite the recent progress in technology, molecular diagnosis of neonates suffering from possible epileptic seizures can be challenging, due to genetic and phenotypic heterogeneities. A large number of specific pathogenic variations have been related to various forms of epilepsies. Next-generation sequencing (NGS) has significantly improved the molecular diagnosis for rare diseases. NGS focusing on genes known to be associated with human diseases is a practical approach as a first-tier assessment for patients with heterogeneous genetic background. In addition, currently medical therapy for seizure is not based on the etiology, but the clinical manifestations, and the main purpose is not to rescue the underlying diseases process, but just to reduce the likelihood of seizures occurrence. In this study, Investigator performed NGS on neonates with seizure onset before 1 year of age, to detect and quantify genetic variants, and assess existing therapeutic effects. Our findings will have important implications for the development of precision medicine strategies.
Interventions
None listed
Sponsors
Children's Hospital of Fudan University
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
No minimum to 12 Months
Healthy volunteers
No
Inclusion criteria
* severe seizures in neonates or generalized epilepsy or intractable epilepsy in infancy with generalized tonic-clonic seizures, * seizures onset before 1 year of age, * epileptic syndromes/epileptic-encephalopathies with unknown etiology.
Exclusion criteria
* Patients were excluded if they had traumas, central nervous system infections, hypoxic-ischemic encephalopathy, vascular events, systemic infections, and diagnosed metabolic disorders, and pathogenic copy-number variants were identified using array-based comparative genomic hybridization (CGH).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Mutation rate of common seizure genes | From the oneset of seizure to the genetic sequencing finish, the process may last up to 3 months. | We'll get the genetic profiles of all neonates who had seizures during this period. The mutation rate of common variant gene was calculated by gene spectrum. |
| Rate of seizure free | From the onset of seizure to 6 months after the onset of seizure | After the onset of seizure, through clinical management and individualized intervention, we expect to observe the number and proportion of effective seizure treatments. |
Countries
China
Contacts
CONTACTWenhao Zhou, Doctor
CONTACTLin Yang, Doctor
STUDY_CHAIRWenhao Zhou, Doctor
Children's Hospital of Fudan University
Outcome results
None listed