Related Experiment Video

Updated: Apr 16, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.8K

Genetic spectrum and risk factor analysis for drug-resistant of early-onset epilepsy

Mingyu Han1,2, Xinmin Ju2,3, Xiangxiang Chen1,2

  • 1Department of Neonatology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Translational Pediatrics
|April 15, 2026
PubMed

Insights

Infants with unexplained seizures and drug-resistant epilepsy (DRE) often show abnormal muscle tone and EEG findings. A definitive genetic diagnosis is a key predictor of DRE in early-onset epilepsy.

Area of Science:

  • Pediatric Neurology
  • Clinical Genetics
  • Epilepsy Research

Background:

  • Early-onset epilepsy, especially neonatal, often has a genetic cause.
  • Predictors for drug-resistant epilepsy (DRE) in infants are not well understood.
  • This study focuses on identifying clinical and genetic risk factors for DRE in infants with unexplained seizures.

Purpose of the Study:

  • To investigate clinical and genetic risk factors for drug-resistant epilepsy (DRE) in infants.
  • To identify predictors that may help in early intervention for DRE.
  • To compare clinical and genetic profiles of infants with DRE versus non-refractory epilepsy.

Main Methods:

  • A retrospective cohort study of 75 infants admitted to a tertiary neonatal center.
  • Infants were stratified into DRE (n=35) and non-refractory epilepsy (n=40) groups based on seizure control.
  • Next-generation sequencing (NGS) was performed, and clinical data (dysmorphic features, tone, feeding, EEG, imaging, development) were compared between groups.

Main Results:

  • DRE patients had significantly higher rates of abnormal muscle tone (68.6% vs 25.0%), feeding difficulties (37.1% vs 12.5%), and epileptiform EEG discharges (82.9% vs 30.0%).
  • Developmental delay was more common in DRE cases (77.4% vs 25.7%).
  • Definitive genetic diagnoses were more frequent in DRE (71.4% vs 37.5%), with recurrent variants in KCNQ2 and SCN2A.

Conclusions:

  • Genetic factors are crucial in early-onset epilepsy.
  • Abnormal muscle tone, epileptiform EEG discharges, and a definitive genetic diagnosis are significant risk factors for DRE.
  • These findings can guide early intervention strategies for infants with DRE.
Abstract

Keywords:
Drug resistant epilepsy (DRE)KCNQ2 potassium channelphenotyperisk factors

More Related Videos

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy08:26

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Published on: October 19, 2021

6.4K
Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization09:57

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

3.9K

Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
1.7K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
129
Drug Toxicity: Risk factors01:24

Drug Toxicity: Risk factors

Adverse Drug Reactions (ADRs) are potential complications that arise during pharmacotherapy, influenced by multiple risk factors. Age plays a significant role; both neonates and the elderly are at heightened risk due to their respective immature and diminished metabolic and elimination processes. Gender also impacts ADRs, with females experiencing a 1.5 to 1.7-fold greater risk than males, which may be linked to pharmacokinetic, pharmacodynamic, and hormonal differences. Notably, neonates, the...
210
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
94
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
157
Antiepileptic Drugs: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...
1.0K