Developmental and epileptic encephalopathies: etiology, diagnostic advances, and evolving management- a narrative review.

Authors

  • Sana Shaik Tbilisi State Medical University, Georgia Author
  • Shrina Patel Dr. M K Shah Medical College and Research Centre, Ahmedabad, India Author
  • Sanjida Tahsin Chattagram Maa-O-Shishu Hospital Medical College, Bangladesh. Author
  • Harshneet Kaur Kalpana Chawla Government Medical College, India. Author
  • Keerthi Easwar Government Stanley Medical College, India. Author
  • Alka Kumari Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan. Author
  • Jasmit Kaur Puri D. Y. Patil School of Medicine, Navi Mumbai, India. Author

DOI:

https://doi.org/10.51168/8p3tj762

Keywords:

Developmental and epileptic encephalopathies, Epilepsy genetics, Electroencephalography, Neuroimaging, Precision medicine

Abstract

Developmental and epileptic encephalopathies (DEE) comprise a severe spectrum of early-onset epilepsy syndromes where epileptic activity aggressively drives progressive cognitive and neurological regression beyond the underlying pathology. This narrative review evaluates the expanding genetic architecture of DEE, explores modern diagnostic developments, and outlines the ongoing paradigm shift from conventional symptomatic management toward gene-targeted, precision therapeutic strategies. A comprehensive literature search was conducted across major databases for articles published between 2010 and 2026.

Recent breakthroughs in next-generation sequencing have dramatically escalated diagnostic yields, allowing clinicians to identify pathogenic variants earlier and establish refined genotype-phenotype correlations. This molecular precision has opened doors for novel mechanism-based interventions, including antisense oligonucleotides, gene replacement platforms, and mutation-specific pharmacology. Concurrently, artificial intelligence-driven electroencephalography analytics and wearable multimodal monitoring networks are improving real-time seizure mapping and patient safety. However, widespread clinical implementation remains restricted by intense genetic heterogeneity, uncertain long-term safety records, and steep financial barriers.

Ultimately, incorporating genomic diagnostics into standard practice is transforming the clinical trajectory of DEE. Future research must prioritize multi-center clinical trials to validate long-term therapeutic efficacy and optimize early-intervention windows during critical stages of neuroplasticity.

Author Biographies

  • Sana Shaik, Tbilisi State Medical University, Georgia

     is a medical graduate of Tbilisi State Medical University, having completed undergraduate training with a strong foundation in clinical medicine and patient care. Sana has been actively involved in research across multiple study designs, including literature reviews, systematic reviews, meta-analyses, case reports and cross-sectional studies.

  • Shrina Patel, Dr. M K Shah Medical College and Research Centre, Ahmedabad, India

     is a medical graduate of Dr. M. K. Shah Medical College and Research Centre, actively contributing to the medical field through research and data collection. With a specific interest in cardiology and gastroenterology, she maintains a dedicated focus on academic consistency and innovative publications within internal medicine.

  • Sanjida Tahsin, Chattagram Maa-O-Shishu Hospital Medical College, Bangladesh.

     

     is a medical professional at Chattogram Maa-O-Shishu Hospital Medical College with postgraduate training in General Surgery and a research focus on neurology, cardiology, and oncology. As a USMLE aspirant, she contributed to this study's clinical framework and manuscript finalization, demonstrating a commitment to evidence-based innovation and patient care.

  • Harshneet Kaur, Kalpana Chawla Government Medical College, India.

     is a medical graduate of Kalpana Chawla Government Medical College and a USMLE aspirant currently gaining clinical experience at NYC Health + Hospitals. She is actively involved in clinical research and scientific writing, recognized for her professional diligence and commitment to excellence in internal medicine.

  • Keerthi Easwar, Government Stanley Medical College, India.

     is a final year medical student at Government Stanley Medical Collage, India . With a strong commitment to continuous learning, professional development, and collaborative research, Keerthi aims to further his contributions to emergency medicine and academic medicine on an international platform.

  • Alka Kumari, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.

     is a medical graduate and licensed intern at Liaquat University Hospital, Pakistan, with a strong research background in internal medicine and a PubMed-indexed first-author publication. For this project, she played a key role in the literature review and manuscript development, reflecting her dedication to scholarly excellence as she prepares for the 2027 Match cycle

  • Jasmit Kaur Puri, D. Y. Patil School of Medicine, Navi Mumbai, India.

     is a medical student at Padmashree Dr. D. Y. Patil School of Medicine, specializing in structured, high-yield clinical education. Her academic approach emphasizes systematic frameworks for diagnosis and management, prioritizing practical application and efficient problem-solving. She is recognized for her professional, goal-oriented style, focusing on clinical competence and disciplined academic excellence

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2026-05-30

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Vol. 3 No. 2 (2026): May 2026 issue

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Section of Pediatric Neurology

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Copyright (c) 2026 Sana Shaik, Shrina Patel, Sanjida Tahsin, Harshneet Kaur, Keerthi Easwar, Alka Kumari, Jasmit Kaur Puri (Author)

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How to Cite

Developmental and epileptic encephalopathies: etiology, diagnostic advances, and evolving management- a narrative review. (S. Shaik, S. Patel, S. Tahsin, H. Kaur, K. Easwar, A. Kumari, & J. K. Puri, Trans.). (2026). SJ Pediatrics and Child Health Africa, 3(2), 14. https://doi.org/10.51168/8p3tj762

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