Etiology and Treatment of Neonatal Seizure
Maneno muhimu
Kikemikali
Maelezo
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.
Tarehe
Imethibitishwa Mwisho: | 01/31/2020 |
Iliyowasilishwa Kwanza: | 12/01/2018 |
Uandikishaji uliokadiriwa Uliwasilishwa: | 01/27/2019 |
Iliyotumwa Kwanza: | 01/29/2019 |
Sasisho la Mwisho Liliwasilishwa: | 02/17/2020 |
Sasisho la Mwisho Lilichapishwa: | 02/19/2020 |
Tarehe halisi ya kuanza kwa masomo: | 08/07/2016 |
Tarehe ya Kukamilisha Msingi iliyokadiriwa: | 12/29/2021 |
Tarehe ya Kukamilisha Utafiti: | 12/29/2021 |
Hali au ugonjwa
Awamu
Vigezo vya Kustahiki
Jinsia Inastahiki Kujifunza | All |
Njia ya sampuli | Non-Probability Sample |
Hupokea Wajitolea wa Afya | Ndio |
Vigezo | 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). |
Matokeo
Hatua za Matokeo ya Msingi
1. Mutation rate of common seizure genes [From the oneset of seizure to the genetic sequencing finish, the process may last up to 3 months.]
2. Rate of seizure free [From the onset of seizure to 6 months after the onset of seizure]