Berg, A. T. et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 51, 676–685 (2010).

Article  PubMed  Google Scholar 

Scheffer, I. E. et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 58, 512–521 (2017). This is the first major revision of the International League Against Epilepsy Classification of the Epilepsies in almost three decades in which the term ‘developmental and epileptic encephalopathies’ was introduced and defined.

Article  PubMed  PubMed Central  Google Scholar 

Poke, G., Stanley, J., Scheffer, I. E. & Sadleir, L. G. Epidemiology of developmental and epileptic encephalopathy and of intellectual disability and epilepsy in children. Neurology 100, e1363–e1375 (2023). This is the key epidemiology study of all DEEs with onset prior to 16 years of age, highlighting that DEEs have a cumulative incidence of 1 in 590 children and providing the cumulative incidence for several DEE syndromes.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wirrell, E. C. et al. Methodology for classification and definition of epilepsy syndromes with list of syndromes: report of the ILAE Task Force on Nosology and Definitions. Epilepsia 63, 1333–1348 (2022).

Article  PubMed  Google Scholar 

Lennox, W. G. The petit mal epilepsies; their treatment with tridione. J. Am. Med. Assoc. 129, 1069–1074 (1945).

Article  CAS  PubMed  Google Scholar 

Gastaut, H. et al. Childhood epileptic encephalopathy with diffuse slow spike-waves (otherwise known as “petit mal variant”) or Lennox syndrome. Epilepsia 7, 139–179 (1966).

Article  CAS  PubMed  Google Scholar 

Specchio, N. 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 63, 1398–1442 (2022). This is one of four papers officially defining epilepsy syndromes for the International League Against Epilepsy and focuses on syndromes beginning in childhood and includes DEEs.

Article  PubMed  Google Scholar 

Howell, K. B. et al. The severe epilepsy syndromes of infancy: a population-based study. Epilepsia 62, 358–370 (2021).

Article  PubMed  Google Scholar 

Symonds, J. D. et al. Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain 144, 2879–2891 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Zuberi, S. M. 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 63, 1349–1397 (2022). This is one of four papers officially defining epilepsy syndromes for the International League Against Epilepsy and focuses on syndromes beginning in the newborn and infantile periods and includes DEEs.

Article  PubMed  Google Scholar 

Riney, K. et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 63, 1443–1474 (2022).

Article  PubMed  Google Scholar 

Li, W., Schneider, A. L. & Scheffer, I. E. Defining Dravet syndrome: an essential pre-requisite for precision medicine trials. Epilepsia 62, 2205–2217 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Symonds, J. D. et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain 142, 2303–2318 (2019). This Scottish epidemiological study provides the incidence and phenotypes of seizure disorders with onset under 3 years of age.

Article  PubMed  PubMed Central  Google Scholar 

Elkhateeb, N. et al. The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clin. Genet. 105, 510–522 (2024).

Article  CAS  PubMed  Google Scholar 

Surana, P. et al. Infantile spasms: etiology, lead time and treatment response in a resource limited setting. Epilepsy Behav. Rep. 14, 100397 (2020).

Article  PubMed  PubMed Central  Google Scholar 

Raga, S. V., Essajee, F., Solomons, R., Van Toorn, R. & Wilmshurst, J. M. Epileptic spasms: a South African overview of aetiologies, interventions, and outcomes. Dev. Med. Child. Neurol. 65, 526–533 (2023).

Article  PubMed  Google Scholar 

Nashef, L., So, E. L., Ryvlin, P. & Tomson, T. Unifying the definitions of sudden unexpected death in epilepsy. Epilepsia 53, 227–233 (2012).

Article  PubMed  Google Scholar 

Myers, K. A. et al. Fatal cerebral edema with status epilepticus in children with Dravet syndrome: report of 5 cases. Pediatrics 139, e20161933 (2017).

Article  PubMed  Google Scholar 

Donnan, A. M., Schneider, A. L., Russ-Hall, S., Churilov, L. & Scheffer, I. E. Rates of status epilepticus and sudden unexplained death in epilepsy in people with genetic developmental and epileptic encephalopathies. Neurology 100, e1712–e1722 (2023). This study examined the frequency of convulsive and non-convulsive status epilepticus and mortality rates in different genetic DEEs, informing counselling of families, diagnosis and clinical management.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Akiyama, M., Kobayashi, K., Yoshinaga, H. & Ohtsuka, Y. A long-term follow-up study of Dravet syndrome up to adulthood. Epilepsia 51, 1043–1052 (2010).

Article  PubMed  Google Scholar 

Myers, K. A. et al. Heart rate variability in epilepsy: a potential biomarker of sudden unexpected death in epilepsy risk. Epilepsia 59, 1372–1380 (2018).

Article  PubMed  Google Scholar 

Steinlein, O. K. et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 11, 201–203 (1995).

Article  CAS  PubMed  Google Scholar 

Biervert, C. et al. A potassium channel mutation in neonatal human epilepsy. Science 279, 403–406 (1998).

Article  CAS  PubMed  Google Scholar 

Singh, N. A. et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat. Genet. 18, 25–29 (1998).

Article  CAS  PubMed  Google Scholar 

Wallace, R. H. et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B. Nat. Genet. 19, 366–370 (1998).

Article  CAS  PubMed  Google Scholar 

Oliver, K. L. et al. Genes4Epilepsy: an epilepsy gene resource. Epilepsia 64, 1368–1375 (2023). This study identified 926 known monogenic epilepsy genes in 2023 and showed that 825 genes were associated with DEEs; since publication, >1,000 genes have been listed on the publicly accessible database.

Article  PubMed  PubMed Central  Google Scholar 

Dravet C. et al. in Epileptic Syndromes in Infancy, Childhood and Adolescence 6th edn (eds Bureau, M. et al.) 139–171 (Libbey Eurotext, 2019).

Zhang, Y. H. et al. Genetic epilepsy with febrile seizures plus: refining the spectrum. Neurology 89, 1210–1219 (2017).

Article  CAS  PubMed  Google Scholar 

Sun, Y. et al. A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet syndrome patients. eLife 5, e13073 (2016).

Article  PubMed  PubMed Central  Google Scholar 

Kaneko, K. et al. Developmentally regulated impairment of parvalbumin interneuron synaptic transmission in an experimental model of Dravet syndrome. Cell Rep. 38, 110580 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rodda, J. M., Scheffer, I. E., McMahon, J. M., Berkovic, S. F. & Graham, H. K. Progressive gait deterioration in adolescents with Dravet syndrome. Arch. Neurol. 69, 873–878 (2012).

Article  PubMed  Google Scholar 

Sadleir, L. G. et al. Not all SCN1A epileptic encephalopathies are Dravet syndrome: early profound Thr226Met phenotype. Neurology 89, 1035–1042 (2017).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brunklaus, A. et al. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain 145, 3816–3831 (2022). This study expands the spectrum of SCN1A DEEs associated wit