Clinical analysis of four cases of KCNQ2 gene-related neonatal-infantile epilepsy / 中华神经科杂志

ABSTRACT

Objective To explore the clinical characteristics of KCNQ2 gene mutation-related neonatal-infantile epilepsy.Methods A retrospective analysis of four cases of neonatal-infantile epilepsy with mutation identified by KCNQ2 gene detection was conducted in the Department of Pediatrics,Affiliated Hospital of Xuzhou Medical University from March to October 2018.The clinical data were collected.Results All the four cases were full-term infants.The onset time was six days,two days,two days and seven months and 12 days after birth,respectively.The types of seizures and electroencephalogram manifestations of these cases were diverse,and the KCNQ2 gene mutation sites were c.2315delC/p.Pro772Args,c.16789C＞T/p.Arg560Trp,c.1696G＞T/p.Asp566Tyr,c.241C＞T/p.Leu81Phe,respectively.The clinical diagnosis was benign familial neonatal epilepsy,infantile epilepsy with migratory focal seizures,infantile spasm and benign familial infantile epilepsy,which were alleviated after antiepileptic drug treatment.The motor and intellectual development of two cases was normal,and two cases showed obvious developmental delay.Conclusions The onset time,mutation site and clinical phenotype of KCNQ2 gene mutation-related epilepsy are various.Gene detection can assist in diagnosis and provide reference for treatment.