A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy

  • STATUS
    Recruiting
  • End date
    Dec 22, 2022
  • participants needed
    100
  • sponsor
    Children's Hospital of Fudan University
Updated on 22 March 2022
epilepsy
seizure
neonatal convulsions

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.

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 1.5 ‰ ~ 3.5 ‰ 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 20q11.3, 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.

Details
Condition Seizures, Seizure Disorder, Seizure Newborn, Seizures, Generalized, Epileptic Encephalopathy, Epileptic Encephalopathy, Neonatal-onset, Epileptic Encephalopathy, Infant-onset, KCNQ2
Treatment KCNQ2, KCNQ2
Clinical Study IdentifierNCT03934268
SponsorChildren's Hospital of Fudan University
Last Modified on22 March 2022

Eligibility

Yes No Not Sure

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
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