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Genetic Research on Epilepsy

A Special Issue of International Journal of Molecular Sciences (ISSN 1422-0067) belonging to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 30 April 2027

Editors


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Guest Editor
Department of Pediatrics, Medical University-Sofia, 1431 Sofia, Bulgaria
Interests: epilepsy; neuromuscular diseases; genetics

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Guest Editor Assistant
Department of Neurology, Inselspital, University Hospital and University of Bern, Bern, Switzerland
Interests: epilepsy; cerebrovascular disease; stroke aetiology

Special Issue Information

Dear Colleagues,

The genetic heterogeneity of epilepsy, incomplete understanding of genotype–phenotype relationships, limited access to genetic testing in low-resource settings, and ethical considerations surrounding genomic data pose significant diagnostic and management challenges for neurologists. At the same time, these challenges present important opportunities for developing targeted therapies, improving diagnostic yield, predicting treatment response, and identifying novel therapeutic targets. Consequently, genetic research in epilepsy has become a priority for both academic investigation and clinical practice, contributing to advances in neuroscience, molecular genetics, pharmacogenomics, and patient-centered healthcare.

This Special Issue will present and disseminate the most recent advances in genetic research related to epilepsy. We invite original research articles, reviews, and clinical studies addressing the genetic basis of epilepsy, novel disease-associated variants, molecular pathophysiology, advances in genomic technologies, genotype–phenotype relationships, translational research, and precision medicine approaches that improve the diagnosis, prognosis, and treatment of epilepsy.

Dr. Ivan O. Litvinenko
Guest Editor

Dr. Krasteva Marina Petrova
Guest Editor Assistant

Manuscript Submission Information

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Keywords

  • developmental and epileptic encephalopathies (DEEs)
  • genetic basis of focal and generalized epilepsies
  • genetics of febrile seizures and febrile seizure syndromes
  • genotype–phenotype correlations in genetic epilepsies
  • novel epilepsy-associated genes and pathogenic variants
  • pharmacogenomics and treatment response in epilepsy
  • gene-targeted and molecular therapies for epilepsy
  • genetic predictors of seizure recurrence and prognosis
  • genetic determinants of epilepsy comorbidities (autism, intellectual disability, psychiatric disorders)
  • cost-effectiveness and clinical utility of genetic testing
  • implementation of genomic medicine in routine epilepsy care
  • clinical decision support using genomic data
  • genetic screening in neonatal intensive care and pediatric neurology
  • prenatal diagnosis and reproductive counseling in inherited epilepsies
  • real-world evidence on the impact of genetic diagnosis
  • future perspectives in precision epilepsy medicine

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Published Papers

This special issue is now open for submission.
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