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Updated: May 21, 2026

Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy
10:22

Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy

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Characterization of the plasma metabolomic profile in infantile epileptic spasms syndrome

Lihua Jiang1, Mengying Zhu1, Yi Zhang1

  • 1Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases, Hangzhou, China.

Translational Pediatrics
|May 20, 2026
PubMed

Insights

This study identified 346 differentially expressed metabolites in infantile epileptic spasms syndrome (IESS) patients, revealing altered amino acid and carbohydrate metabolism. Six metabolites show promise as diagnostic biomarkers for IESS.

Area of Science:

  • Biochemistry
  • Clinical Neurology
  • Metabolomics

Background:

  • Infantile epileptic spasms syndrome (IESS) is the leading cause of infant epileptic encephalopathy.
  • The underlying metabolic mechanisms contributing to IESS pathogenesis remain largely unknown.
  • Investigating metabolic profiles may uncover key pathways and diagnostic markers for IESS.

Purpose of the Study:

  • To investigate plasma metabolic profiles in IESS patients.
  • To identify differentially expressed metabolites (DEMs) between IESS patients and healthy children.
  • To explore the potential of DEMs as diagnostic biomarkers for IESS.

Main Methods:

  • Collected plasma samples from 40 IESS patients and 30 healthy children.
  • Utilized ultra-high performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) for metabolomic analysis.
  • Employed bioinformatics and receiver operating characteristic (ROC) curve analysis to identify discriminatory metabolites and assess biomarker potential.

Main Results:

  • Identified 346 DEMs between IESS patients and healthy controls.
  • Observed significant alterations in amino acid and carbohydrate metabolism pathways.
  • Six DEMs demonstrated promising diagnostic performance in the discovery cohort.

Conclusions:

  • The study provides insights into altered metabolic activity in IESS.
  • Identified candidate biomarkers for IESS diagnosis warranting further validation.
  • Highlights the potential of metabolomics in understanding IESS pathogenesis and diagnosis.
Abstract

Keywords:
Plasma metabolomicsinfantile epileptic spasms syndrome (IESS)metabolic biomarkersultra-high performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS)

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