Clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children.
10.7499/j.issn.1008-8830.2111110
- Author:
Chong-Yuan LAI
1
;
Rui-Hua CHEN
1
;
Chun-Lan ZHONG
1
;
Ming-Ming JI
1
;
Bing-Fei LI
1
Author Information
1. Center of Epilepsy Diagnosis and Treatment, Department of Pediatric Neurology, Ganzhou Maternal and Child Health Care Hospital, Ganzhou, Jiangxi 341000, China.
- Publication Type:Journal Article
- Keywords:
16p11.2 microdeletion;
Child;
Epilepsy;
Whole exon sequencing technology
- MeSH:
Anticonvulsants;
Epilepsy/genetics*;
Humans;
Phenotype;
Retrospective Studies;
Seizures/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2022;24(5):585-590
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVES:To study the clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children.
METHODS:The medical data of 200 children with epilepsy who underwent a genetic analysis of epilepsy by the whole exon sequencing technology were collected retrospectively, of whom 9 children with epilepsy had 16p11.2 microdeletion. The clinical phenotype and genetic features of the 9 children with 16p11.2 microdeletion were analyzed.
RESULTS:The detection rate of 16p11.2 microdeletion was 4.5% (9/200). The 9 children with 16p11.2 microdeletion were 3-10 months old. They experienced focal motor seizures with consciousness disturbance, and some of the seizures developed into generalized tonic-clonic seizures. The interictal electroencephalogram showed focal or multifocal epileptiform discharge, and all 9 children responded well to antiepileptic drugs. The 9 children had a 16p11.2 deletion fragment size of 398-906 kb, and the number of deleted genes was 23-33 which were all pathogenic mutations. The mutation was of maternal origin in 2 children, of paternal origin in 1 child, and de novo in the other children.
CONCLUSIONS:16p11.2 microdeletion can be detected in some children with epilepsy. Most of the 16p11.2 microdeletion is de novo mutation and large gene fragment deletion. The onset of 16p11.2 microdeletion-related epilepsy in children is mostly within 1 year of life, and the epilepsy is drug-responsive.
