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

Fudan University

Status: Enrolling

Conditions: Seizures; Epileptic Encephalopathy, Neonatal-onset; Seizures, Generalized; Epileptic Encephalopathy, Infant-onset; Seizure Newborn; Epileptic Encephalopathy; Seizure Disorder; KCNQ2

Treatments: Genetic: KCNQ2

Study type: Observational

Funder types: Other

Identifiers

NCT03934268

CHFudanU_NNICU12

Details and patient eligibility

About

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.

Full 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.

Enrollment: 100 estimated patients

Sex: All

Ages: Under 28 days old

Volunteers: No Healthy Volunteers

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.

Trial design

100 participants in 1 patient group

infants with seizure with KCNQ2 gene mutation.

Description:

Infants who met the inclusion criteria were enrolled in this study. The infants will get their own DNA sequencing results by WES technology. The researchers found that some of them carried mutations in the KCNQ2 gene. so they wanted to compare whether there were differences with or without KCNQ2 gene mutations in the efficacy of anticonvulsants or long-term neurodevelopment in different exposure groups.

Treatment:

Genetic: KCNQ2