Viewing Study NCT03934268



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Last Modification Date: 2024-10-26 @ 1:09 PM
Study NCT ID: NCT03934268
Status: RECRUITING
Last Update Posted: 2023-09-21
First Post: 2019-04-29

Brief Title: A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy
Sponsor: Childrens Hospital of Fudan University
Organization: Childrens Hospital of Fudan University

Study Overview

Official Title: A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy
Status: RECRUITING
Status Verified Date: 2023-09
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: None
Brief Summary: 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
Detailed Description: Convulsion is the most common clinical manifestation of neonatal central nervous system dysfunction the incidence of convulsion is very high in neonatal period especially in the first week after birth the incidence of convulsion decreases gradually with the increase of age The incidence of convulsion reported by Bassan et al was 15 35 in term infants and 10 130 in premature infants Most of the neonatal convulsions suggest that there are serious primary diseases in the body in addition to hypoxic-ischemic encephalopathy intracranial hemorrhage and infection a large number of studies have proved that genetic factors play a key role in the occurrence of neonatal convulsions and epileptic encephalopathy in infants Nearly 20 to 50 of neonatal convulsions are idiopathic convulsions it has been thought that KCNQ2 gene a potassium channel subunit located in 20q113 and KCNQ3 gene another potassium channel subunit located in 8q24 are mutated Is the molecular basis for some benign familial neonatal convulsions Usually the prognosis is good but with the expansion of the study sample investigators found that KCNQ2 may be associated with refractory epileptic encephalopathy and there are few international reports in this regard The study of KCNQ2 gene has led to a new understanding of the etiology of neonatal convulsion 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

Study Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: False
Is a FDA Regulated Device?: False
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None