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

Chong-Yuan Lai1, Rui-Hua Chen1, Chun-Lan Zhong1

  • 1Center of Epilepsy Diagnosis and Treatment, Department of Pediatric Neurology, Ganzhou Maternal and Child Health Care Hospital, Ganzhou, Jiangxi 341000, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|June 1, 2022
PubMed

Insights

16p11.2 microdeletion is a genetic cause of epilepsy in children, often presenting within the first year of life with drug-responsive seizures. Most cases involve large, de novo deletions.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Epilepsy is a common neurological disorder in children.
  • Genetic factors play a significant role in the etiology of childhood epilepsy.
  • 16p11.2 microdeletions are known genetic alterations associated with various neurodevelopmental disorders.

Purpose of the Study:

  • To investigate the clinical characteristics and genetic profiles of pediatric epilepsy associated with 16p11.2 microdeletion.
  • To determine the prevalence of 16p11.2 microdeletion in a cohort of children with epilepsy.

Main Methods:

  • Retrospective analysis of medical data from 200 children with epilepsy.
  • Whole exome sequencing was employed for genetic analysis.
  • Detailed clinical phenotype and genetic features of children with 16p11.2 microdeletion were examined.

Main Results:

  • A detection rate of 4.5% for 16p11.2 microdeletion was observed in the study cohort.
  • Affected children, aged 3-10 months, presented with focal motor seizures evolving to generalized tonic-clonic seizures.
  • Interictal EEG revealed focal or multifocal epileptiform discharges, and all patients responded well to antiepileptic drugs.
  • Deletion sizes ranged from 398-906 kb, involving 23-33 genes, with a majority being de novo mutations.

Conclusions:

  • 16p11.2 microdeletion is an identifiable genetic cause of epilepsy in children.
  • The majority of these microdeletions are large, de novo mutations.
  • Onset typically occurs within the first year of life, and the epilepsy is generally responsive to medication.
Abstract

Keywords:
16p11.2 microdeletionChildEpilepsyWhole exon sequencing technology

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