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Article

[Clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 May 2022

Lai Chong-Yuan, Chen Rui-Hua, Zhong Chun-Lan, Ji Ming-Ming, Li Bing-Fei

Abstract excerpt

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...

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Identifiers

PMID: 35644201
DOI: 10.7499/j.issn.1008-8830.2111110
PMCID: PMC9154364

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