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DOI: 10.1055/s-0045-1809434
Developmental and Epileptic Encephalopathies: Progress in Understanding and Clinical Implications

Abstract
Developmental and epileptic encephalopathies (DEEs) are a group of complex pediatric epilepsies associated with adverse neurodevelopmental outcomes and multiaxial neurological morbidities. The understanding of DEE has evolved from its initial genetic underpinnings, to a clinically driven term encompassing a broader group of etiologies. Although individually rare, the DEEs constitute a sizeable group of pediatric epilepsies. It is especially important to recognize treatable or modifiable entities in this group. This review attempts to highlight the progress in understanding, along with the evolution of the conceptual framework of DEEs. A summary of the currently well-established DEE syndromes is provided along with available precision therapies, which might help the treating physician in the appropriate evaluation and management of the affected children.
Publikationsverlauf
Artikel online veröffentlicht:
11. August 2025
© 2025. Indian Epilepsy Society. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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References
- 1 Scheffer IE, Berkovic S, Capovilla G. et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 2017; 58 (04) 512-521
- 2 Engel Jr J. International League Against Epilepsy (ILAE). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001; 42 (06) 796-803
- 3 Gastaut H, Roger J, Soulayrol R. et al. Childhood epileptic encephalopathy with diffuse slow spike-waves (otherwise known as “petit mal variant”) or Lennox syndrome. Epilepsia 1966; 7 (02) 139-179
- 4 Berg AT, Berkovic SF, Brodie MJ. et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51 (04) 676-685
- 5 Kalser J, Cross JH. The epileptic encephalopathy jungle - from Dr West to the concepts of aetiology-related and developmental encephalopathies. Curr Opin Neurol 2018; 31 (02) 216-222
- 6 Trivisano M, Specchio N. What are the epileptic encephalopathies?. Curr Opin Neurol 2020; 33 (02) 179-184
- 7 Ma Y, Kaminski M, Kim A. Surgical treatment of epileptic encephalopathy with spike-and-wave activation in sleep: a systematic review and meta-analysis. Seizure 2024; 119: 78-83
- 8 Scheffer IE, Liao J. Deciphering the concepts behind “epileptic encephalopathy” and “developmental and epileptic encephalopathy”. Eur J Paediatr Neurol 2020; 24: 11-14
- 9 Specchio N, Curatolo P. Developmental and epileptic encephalopathies: what we do and do not know. Brain 2021; 144 (01) 32-43
- 10 Yozawitz EG, Dhillon P. Developmental and epileptic encephalopathies. Medlink. Last updated February 25, 2024. Accessed May 13, 2025 at: https://www.medlink.com/articles/developmental-and-epileptic-encephalopathies
- 11 Scheffer IE, Zuberi S, Mefford HC, Guerrini R, McTague A. Developmental and epileptic encephalopathies. Nat Rev Dis Primers 2024; 10 (01) 61
- 12 Oliver KL, Scheffer IE, Bennett MF, Grinton BE, Bahlo M, Berkovic SF. Genes4Epilepsy: an epilepsy gene resource. Epilepsia 2023; 64 (05) 1368-1375
- 13 Cavirani B, Spagnoli C, Caraffi SG. et al. Genetic epilepsies and developmental epileptic encephalopathies with early onset: a multicenter study. Int J Mol Sci 2024; 25 (02) 1248
- 14 Spagnoli C, Fusco C, Percesepe A, Leuzzi V, Pisani F. Genetic neonatal-onset epilepsies and developmental/epileptic encephalopathies with movement disorders: a systematic review. Int J Mol Sci 2021; 22 (08) 4202
- 15 Morrison-Levy N, Borlot F, Jain P, Whitney R. Early-onset developmental and epileptic encephalopathies of infancy: an overview of the genetic basis and clinical features. Pediatr Neurol 2021; 116: 85-94
- 16 Guerrini R, Conti V, Mantegazza M, Balestrini S, Galanopoulou AS, Benfenati F. Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum. Physiol Rev 2023; 103 (01) 433-513
- 17 Zuberi SM, Wirrell E, Yozawitz E. et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2022; 63 (06) 1349-1397
- 18 Vinayan KP, Jyotsna AS. Progressive Myoclonic epilepsies. Last updated December 31, 2023. Accessed May 13, 2025 at: https://www.medlink.com/articles/progressive-myoclonus-epilepsies
- 19 Specchio N, Wirrell EC, Scheffer IE. et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia 2022; 63 (06) 1398-1442
- 20 Chromosomal Abnormalities-Epilepsy Diagnosis.org. Last Updated June 3, 2024. Accessed May 13, 2025 at: https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html
- 21 Bartolini E. Inherited developmental and epileptic encephalopathies. Neurol Int 2021; 13 (04) 555-568
- 22 Johannessen Landmark C, Potschka H, Auvin S. et al. The role of new medical treatments for the management of developmental and epileptic encephalopathies: novel concepts and results. Epilepsia 2021; 62 (04) 857-873
- 23 Devinsky O, Cross JH, Laux L. et al; Cannabidiol in Dravet Syndrome Study Group. Trial of cannabidiol for drug-resistant seizures in the Dravet syndrome. N Engl J Med 2017; 376 (21) 2011-2020
- 24 Hess EJ, Moody KA, Geffrey AL. et al. Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex. Epilepsia 2016; 57 (10) 1617-1624
- 25 Ceulemans B, Boel M, Leyssens K. et al. Successful use of fenfluramine as an add-on treatment for Dravet syndrome. Epilepsia 2012; 53 (07) 1131-1139
- 26 Sourbron J, Smolders I, de Witte P, Lagae L. Pharmacological analysis of the anti-epileptic mechanisms of fenfluramine in scn1a mutant zebrafish. Front Pharmacol 2017; 8: 191
- 27 Previtali R, Prontera G, Alfei E. et al. Paradigm shift in the treatment of tuberous sclerosis: effectiveness of everolimus. Pharmacol Res 2023; 195: 106884
- 28 Borlot F, Abushama A, Morrison-Levy N. et al. KCNT1-related epilepsy: an international multicenter cohort of 27 pediatric cases. Epilepsia 2020; 61 (04) 679-692
- 29 Mullen SA, Carney PW, Roten A. et al. Precision therapy for epilepsy due to KCNT1 mutations: a randomized trial of oral quinidine. Neurology 2018; 90 (01) e67-e72
- 30 Myers KA, Scheffer IE. Precision medicine approaches for infantile-onset developmental and epileptic encephalopathies. Annu Rev Pharmacol Toxicol 2022; 62: 641-662
- 31 Howell KB, Harvey AS, Archer JS. Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept. Epilepsia 2016; 57 (03) 343-347