Transforming Care in Childhood Epilepsy: Advances in Diagnosis and Treatment

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Neurology & Neurodevelopmental Disorders".

Deadline for manuscript submissions: 25 February 2026 | Viewed by 516

Special Issue Editor


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Guest Editor
Department of Pediatrics, University of Arkansas Medical Sciences, Little Rock, AR, USA
Interests: epilepsy; child neurology; clinical neurophysiology; EEG analysis; tuberous sclerosis; neurometabolism; neurogenetics
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Special Issue Information

Dear Colleagues,

This Special Issue of Children is devoted to advances in epilepsy diagnosis and treatment. Epilepsy is one of the most common chronic neurological disorders in children. Beyond seizures, it often affects behavior, cognition, and overall quality of life. Despite the availability of numerous antiseizure medications and surgical options, approximately one-third of children continue to experience drug-resistant epilepsy. This highlights the urgent need to deepen our understanding of the mechanisms and pathophysiology of epilepsy and to translate these insights into more effective prevention and treatment strategies.

In the past decade, significant progress has been made in this field. Advances in risk factor identification now include genetic variants and structural brain abnormalities revealed through advanced neuroimaging. Mechanistic studies have uncovered key roles of dysregulated molecular pathways, altered neurotransmitter systems, and neuroinflammation in epileptogenesis. Prognostication has improved with predictive models for surgical outcomes, EEG biomarkers such as high-frequency oscillations, and genetic predictors of treatment response. Clinically, the emergence of minimally invasive surgical approaches and novel neurostimulation devices has expanded therapeutic options. Collectively, these advances have already enabled many children to achieve improved seizure control and better quality of life.

This Special Issue aims to highlight both scientific and clinically relevant developments in pediatric epilepsy research and care. We welcome both original research and comprehensive reviews in areas such as

  • Epidemiology and risk factors in pediatric epilepsy;
  • Innovations in diagnostics, including neuroimaging, neurophysiology, and genetics;
  • Mechanistic insights into epileptogenesis and comorbidities;
  • Emerging and established treatment approaches: pharmacological, dietary, neuromodulatory, and surgical;
  • Inter-relationships between epilepsy and other common pediatric disease states.

Our goal is to provide an authoritative overview of recent progress that simultaneously serves as a valuable resource for education, training, and clinical practice.

We look forward to receiving your contributions.

Sincerely,

Prof. Dr. Debopam Samanta
Guest Editor

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Keywords

  • seizure
  • children
  • drug-resistant epilepsy
  • epileptogenesis
  • neuroimaging
  • genetics
  • biomarkers
  • neuromodulation
  • epilepsy surgery
  • precision medicine

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Published Papers (1 paper)

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Research

31 pages, 485 KB  
Article
Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study
by Mario Mastrangelo, Claudia Carducci, Filippo Manti, Giacomina Ricciardi, Rossella Bove, Francesco Pisani and Vincenzo Leuzzi
Children 2025, 12(11), 1514; https://doi.org/10.3390/children12111514 - 9 Nov 2025
Viewed by 323
Abstract
Objectives: To investigate the clinical value of cerebrospinal fluid (CSF) testing for biogenic amine, pterins, amino acids, and folates in paediatric onset epilepsies. Methods: Retrospective clinical and biochemical phenotyping of patients with epilepsy who underwent diagnostic CSF measurement of monoamine neurotransmitters, pterins, folates, [...] Read more.
Objectives: To investigate the clinical value of cerebrospinal fluid (CSF) testing for biogenic amine, pterins, amino acids, and folates in paediatric onset epilepsies. Methods: Retrospective clinical and biochemical phenotyping of patients with epilepsy who underwent diagnostic CSF measurement of monoamine neurotransmitters, pterins, folates, and amino acids between 2009 and 2022. Results: The studied cohort included 123 patients with epilepsy (mean age at the procedure: 4.54 ± 3.65 years). The diagnostic yield for primary neurotransmitter disorders was 1.68% and zero for inherited amino acid and folate metabolism disorders. Patients with higher seizure frequency showed higher levels of CSF homovanillic acid (HVA) and HVA/5-hydroxyindolacetic acid (5HIAA) ratio. Lower levels of 3-O-methyldopa (3-OMD) were found in patients with co-occurring neurodevelopmental disorders, and lower levels of biopterin, 3-methoxy-4-hydroxyphenylglycol (3-MHPG) and 5-methyltetrahydrofolate (5-MTHF) in those with movement disorders. Significantly lower CSF glutamine levels were found in patients receiving antiseizure medications as polytherapy. Patients with a history of status epilepticus had significantly lower levels of CSF aspartic acid, glycine, leucine, ornithine, and valine, and higher levels of CSF serine. Conclusions: CSF analysis disclosed differences in the concentrations of various metabolites that might be related to the severity of the epilepsy, the presence of comorbid conditions, and medications. Full article
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