ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2022
[Clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children].
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectivesTo study the clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children.
methodsThe 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.
resultsThe 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
conclusions16p11.2 microdeletion can be detected in some children with epilepsy. Most of the 16p11.2 microdeletion is
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