Genetic diagnosis of neonatal-onset seizures  

作　　者：Xueling Ma Fengzhu Yang Ziyu Hua 

机构地区：[1]The Department of Neonatology,Children’s Hospital of Chongqing Medical University,Chongqing,400014,China [2]Ministry of Education Key Laboratory of Child Development and Disorders,Chongqing,400014,China [3]Chongqing International Science and Technology Cooperation Center for Child Development and Disorders,Chongqing,400014,China [4]Chongqing Key Laboratory of Child Infection and Immunity,Chongqing,400014,China [5]National Demonstration Base of Standardized Training Base for Resident Physicians,Chongqing,400014,China

出　　处：《Genes & Diseases》2019年第4期441-447,共7页基因与疾病（英文）

基　　金：The study was funded by the grant from National Key Clinical Specialist Construction Programs of China-Neonatology(Grant No.2011-873).The funding agency had no role in study design,data collection and analysis,or preparation of the manuscript.

摘　　要：Many seizures in neonates are due to early-onset epilepsy,which is often difficult to diagnose,especially to explore the causes.Recently,the development of next-generation sequencing(NGS)has led to the discovery of a large number of genes involved in epilepsy.This may improve prompt detection of early-onset epilepsy in neonates.This study aimed at analyzing the genotype-phenotype correlations in neonates with seizures in a bid to improve the understanding of genetic diagnosis of early-onset epilepsy.Clinical features and prognosis of 15 children who underwent genetic testing having had unexplained seizures from February 2016 to May 2018 in Children’s Hospital of Chongqing Medical University were analyzed retrospectively.The salient findings were:poor response to stimulus and abnormal electroencephalogram(EEG)in the initial period were observed in the group with concomitant genetic abnormalities.Despite the recent progress in genetic technology,molecular diagnosis for neonatal-onset epilepsy can be challenging due to genetic and phenotypic heterogeneities.However,some genotypes are associated with specific clinical manifestations and EEG patterns.Therefore,in-depth understanding of genotype-phenotype correlations would be useful to clinicians managing neonates with early-onset seizures.

关 键 词：GENETIC GENOTYPE-PHENOTYPE Molecular diagnosis NEONATE Seizures 

分 类 号：R74[医药卫生—神经病学与精神病学]