Analysis on the clinical characteristics and gene mutation characteristics of PRRT2 gene mutation-related epilepsy in pediatric patients
RUAN Yiyan
CHEN Yuyi
WANG Jinqiu
CHEN Yin
FENG Juntan
WEI Fengping
SONG Lingli
LIANG Lusi
Abstract：Objective To analyze the clinical characteristics and gene mutation characteristics of proline-rich transmembrane protein 2(PRRT2)gene mutation-related epilepsy in children.Methods The clinical data of 17 pedi-atric patients with PRRT2 gene mutation-related epilepsy who were admitted to Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to August 2020 were retrospectively analyzed,and their clinical characteristics and gene mutation characteristics were summarized and analyzed.Results Among the 17 pediatric patients,9 cases were male and 8 cases were female,and the median onset age of the patients was 5 months.There were various types of epileptic seizures,and 10 cases had cluster seizures at the beginning of the disease.The patients were diag-nosed with benign infantile epilepsy(BIE)in 8 cases,benign familial infantile epilepsy(BFIE)in 4 cases,infantile spasms(IS)in 1 case,and BFIE+paroxysmal kinesigenit dyskinesia(PKD)in 1 case.After monotherapy with anti-seizure medications,the condition of the most pediatric patients was well controlled.Up to the last follow-up,16 patients'seizures were relieved,and 1 patient still had seizures.Cognitive development was delayed in 4 patients.The results of genetic testing showed that 8 cases of the 17 cases had global deletion of PRRT2 gene,and 9 cases had point mutation of PRRT2 gene,all of which were frameshift mutations,and the mutation site of 8 cases was c.640_641insC.There were 7 cases of familial inherited mutation and 2 cases of de novo mutation.Conclusion The majority of PRRT2 gene mutation-related epilepsy are in onset within 6 months after birth in pediatric patients,and cluster seizures are the prominent features at the beginning of the disease.There are various types of epileptic seizures with varying degrees of severity.Monotherapy with anti-seizure medications can effectively control epileptic seizures.A small number of the pediatric patients have different degrees of cognitive retardation.The site of c.640_641insC may be the hot spot mutation site of PRRT2 gene.
Keywords：Proline-rich transmembrane protein 2(PRRT2)EpilepsyGene mutationClinical char-acteristics
Publication Date：2024-08-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 907-912 )