Русский журнал детской неврологии. 2022; 17: 6-95
Определение и классификация эпилепсии. Проект Международной противоэпилептической лиги по классификации и дефиниции эпилептических синдромов от 2021 г
https://doi.org/10.17650/2073-8803-2022-17-1-6-95Аннотация
В статье представлены обновленные, измененные диагностические критерии эпилептических синдромов, предложенные консенсусом экспертов рабочей группы по нозологии и дефиниции (Nosology and Definitions Taskforce) Международной противоэпилептической лиги (International League Against Epilepsy, ILAE) в 2021 г. Действующая в настоящее время классификация эпилептических синдромов была утверждена еще в 1989 г. Проект ILAE по новой классификации и дефиниции эпилептических синдромов – результат огромной многолетней коллективной работы многих экспертов в области эпилептологии со всего мира. Проект новой классификации эпилептических синдромов представлен на сайте ILAE для широкого обсуждения. Он включает 4 основных раздела: 1) классификация и дефиниция эпилептических синдромов в неонатальном и младенческом возрасте; 2) классификация и дефиниция эпилептических синдромов с началом в детском возрасте; 3) классификация и дефиниция эпилептических синдромов с началом в разные возрастные периоды; 4) классификация и дефиниция эпилептических синдромов идиопатической генерализованной эпилепсии. Каждый блок классификации базируется на тщательном анализе данных литературы и клинического опыта экспертов. Основная цель – идентифицировать эпилептические синдромы на основании классификации форм эпилепсии и типов эпилептических приступов 2017 г.; выделить характерные признаки каждого синдрома для улучшения клинической диагностики. Для каждого синдрома представлены эпидемиология, клиническое течение, типы приступов, электроэнцефалографические признаки, особенности нейровизуализации, генетические исследования, а также дифференциальная диагностика с другими эпилептическими синдромами и различными неэпилептическими состояниями. Выделены «обязательные критерии диагностики», необходимые для установления диагноза, а также «настораживающие признаки», которые лишь в редких случаях могут встречаться при данном синдроме, но не являются критериями исключения. Особое внимание уделено признакам, которые не должны присутствовать при данном синдроме и являются критериями его исключения. При установлении критериев каждого эпилептического синдрома рабочая группа основывалась на самых последних данных литературы, включая интернет-ресурсы и мнение экспертов в области эпилептологии. Международная классификация должна применяться специалистами всего мира. Она должна содержать ясную, четкую и простую для понимания терминологию; язык описания синдромов должен быть простым и понятным. С учетом современных научных знаний в рамках Проекта новой классификации пересмотрены дефиниции хорошо известных электроклинических эпилептических синдромов и предложена концепция детерминирования эпилептических синдромов в зависимости от этиологии (включая те синдромы, при которых патогенные мутации в различных генах или структурные изменения имеют четкую корреляцию с определенным электроклиническим синдромом). Представлен новый класс эпилептических синдромов со специфической этиологией, которая включает генетические, генетически-метаболические, структурные и генетически-структурные причины. Проект классификации не затрагивает вопросы терапии эпилептических синдромов, однако для некоторых синдромов указаны антиэпилептические препараты, которые наиболее эффективны или вызывают аггравацию. Мощной мотивацией к включению этиологических принципов в основу классификации служат перспектива дальнейшего развития таргетных методов генной терапии и одобрение на основании рандомизированных клинических исследований антиэпилептических препаратов, специфичных для лечения определенных эпилептических синдромов. В заключении статьи авторы представляют обсуждение Проекта классификации, в рамках которого излагают свои идеи, комментарии, предложения и замечания. Цель нашей статьи – подробное ознакомление широкого круга специалистов с новым Проектом классификации. Помимо подробного освещения положений Проекта статья содержит детальное изложение существующих в настоящее время принципов классификации эпилепсии и эпилептических приступов. Также представлено обсуждение с комментариями авторов по Проекту новой классификации.
Список литературы
1. Berg A.T., Berkovic S.F., Brodie M.J. 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;51:676–85.
2. Camfield P., Camfield C. Incidence, prevalence and aetiology of seizures and epilepsy in children. Epileptic Disord 2015;17(2):117–23.
3. Caraballo R.H., Cersósimo R.O., Fejerman N. Late-onset, “Gastaut type”, childhood occipital epilepsy: an unusual evolution. Epileptic Disord 2005;7(4):341–6.
4. Caraballo R., Koutroumanidis M., Panayiotopoulos C.P., Fejerman N. Idiopathic childhood occipital epilepsy of gastaut: a review and differentiation from migraine and other epilepsies. J Child Neurol 2009;24(12):1536–42.
5. Doose H., Neubauer B.A., Petersen B. The concept of hereditary impairment of brain maturation. Epileptic Disord 2000;2(Suppl 1):45–9.
6. Doose H. EEG in childhood epilepsy. Hamburg: John Libbey, 2003. Pp. 191–243.
7. Fisher R.S., Acevedo C., Arzimanoglou A. et al. ILAE official report: a practical clinical definition of epilepsy. Epilepsia 2014;55:475–82.
8. Fisher R.S., Cross J.H., French J.A. et al. Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology. Epilepsia 2017:58(4):522–30.
9. Fisher R.S., Cross J.H., D’Souza C. et al. Instruction manual for the ILAE 2017 operational classification of seizure types. Epilepsia 2017;58(4):531–42.
10. Gómez-Porro P., Serrano A.A., Toledano R. et al. Genetic (idiopathic) generalized epilepsy with occipital semiology. Epileptic Disord 2018:20(5):434–9.
11. Hirsch E., French J., Scheffer I. et al. Definition of the Idiopathic Generalized Epilepsy Syndromes: Position Paper by the ILAE Task Force on Nosology and Definitions. Epilepsia 2021.
12. Hirsch E., French J., Scheffer I. et al. ILAE Definition of the Idiopathic Generalized Epilepsy Syndromes: Position Statement by the ILAE Task Force on Nosology and Definitions. Available at: https://www.ilae.org/files/dmfile/IGEFINALApril2.pdf.
13. Lee Y.J.H., Kang H.C., Lee J.S. et al. Resective pediatric epilepsy surgery in Lennox–Gastauts. Pediatrics 2010;125(1):e58–66.
14. Lüders H.-O., Acharya J., Baumgartner C. et al. Semiological seizure classification. Epilepsia 1998;39:1006–13.
15. Lüders H.-O., Akamatsu N., Amina S. et al. Critique of the 2017 epileptic seizure and epilepsy classifications. Epilepsia 2019;60(6):1032–9.
16. Mayo S., Gómez-Manjón I., FernándezMartínez F.J. et al. Candidate genes for Eyelid Myoclonia with Absences, review of the literature. Int J Mol Sci 2021;22:5609. DOI: 10.3390/ijms22115609.
17. Marco P., Tassinari C.A. Extreme Somatosensory Evoked Potential (ESEP): An EEG sign forecasting the possible occurrence of seizures in children. Epilepsia 1981;22(5):569–75.
18. Panayiotopoulos C., Bureau M., Caraballo R. et al. Idiopathic focal epilepsies in children. In: Epileptic syndromes in infancy, childhood and adolescence. 5th edn with video. Paris: John Libbey Eurotext, 2012. Pp. 217–254.
19. Pressler R.M., Cilio M.R., Mizrahi E.M. et al. The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia 2021;62:615–28.
20. Proposed Classification and Definition of Epilepsy Syndromes. Available at: https://www.ilae.org/guidelines/definition-and-classification/proposed-classification-and-definition-of-epilepsy-syndromes.
21. Riney K., Bogacz A., Somerville E. et al. ILAE Classification and Definition of Epilepsy Syndromes with Onset at a Variable Age: Position Statement by the ILAE Task Force on Nosology and Definitions. Available at: https://www.ilae.org/files/dmfile/Riney_VariableAges_7Apr21.pdf.
22. Sadleir L.G., Vears D., Reganet B. al. Family studies of individuals with eyelid myoclonia with absences. Epilepsia 2012;53(12):2141–8.
23. Scheffer I.E., Berkovic S., Capovilla G. et al. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia 2017;58(4):512–21.
24. Specchio N., Wirrell E.C., Scheffer I.E. et al. ILAE classification and definition of epilepsy syndromes with onset in childhood: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2021.
25. Specchio N., Wirrell E.C., Scheffer I.E. et al. ILAE Classification and Definition of Epilepsy Syndromes with Onset in Childhood: Position Paper by the ILAE Task Force on Nosology and Definitions. Available at: https://www.ilae.org/files/dmfile/CHILDApril6withfigs.pdf.
26. Tarta-Arsene O., Pieper T., Hartlieb T. et al. Overrepresentation of age-related epileptiform discharges in children with hemispheric epilepsy syndromes. Epilepsia 2015;56(Suppl S1):249.
27. Wirrell E.C., Nabbout R., Scheffer I.E. et al. Methodology for Classification and Definition of Epilepsy Syndromes: Report of the ILAE Task Force on Nosology and Definitions. Available at: https://www.ilae.org/files/dmfile/SyndromeMethodologyFINALMARCH29.pdf.
28. Wirrell E.С., Nabbout R., Scheffer I. et al. Methodology for Classification and Definition of Epilepsy Syndromes: Report of the ILAE Task Force on Nosology and Definitions. Epilepsia 2021.
29. Zuberi S.M., Wirrell E., Yozawitz E. et al. ILAE classification and definition of epilepsy syndromes in the neonate and infant: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2021.
30. Zuberi S.M., Wirrell E., Yozawitz E. et al. ILAE Classification & Definition of Epilepsy Syndromes in the Neonate and Infant: Position Statement by the ILAE Task Force on Nosology and Definitions. Available at: https://www.ilae.org/files/dmfile/Neonatal_Infantile_Finalapril5.pdf.
Russian Journal of Child Neurology. 2022; 17: 6-95
Classification and definition of epilepsy. Position paper by the International League Against Epilepsy on Nosology and Definitions of Epilepsy Syndromes dated 2021
https://doi.org/10.17650/2073-8803-2022-17-1-6-95Abstract
This article presents updated and revised diagnostic criteria for epilepsy syndromes proposed in 2021 by the Nosology and Definitions Taskforce of the International League Against Epilepsy (ILAE). The current classification of epilepsy syndromes was developed in 1989. The new ILAE Classification and Definition of Epilepsy Syndromes is a result of huge work of many experts from all over the world. The draft of the new classification is presented on the ILAE website for wide discussion. It includes 4 main sections: 1) classification and definition of epilepsy syndrome with onset in neonates and infants; 2) classification and definition of epilepsy syndromes with onset in childhood; 3) classification and definition of epilepsy syndromes with onset at a variable age; 4) definition of the idiopathic generalized epilepsy syndromes. Each section is based on a thorough analysis of literature and clinical experience of experts. Its main purpose is to identify epilepsy syndromes using the 2017 ILAE classification of epilepsy forms and types of epileptic seizures, as well as to identify specific characteristics of each syndrome to improve clinical diagnosis. For each syndrome, the document provides the details on its epidemiology, clinical manifestations, types of seizures, electroencephalographic features, neuroimaging signs, genetic examination, as well as differential diagnosis with other epilepsy syndromes and various non-epileptic conditions. It introduces mandatory criteria that must be present in order to diagnose the syndrome and alert criteria that are absent in the vast majority of cases within a syndrome, but rarely can be seen. Particular attention is paid to exclusionary criteria that must be absent in order to diagnose the syndrome. When developing the criteria for each epilepsy syndrome, the ILAE Task Force used the latest literature data, including Internet resources and the opinion of experts in this area. The international classification should be applied by specialists from all over the world. It should contain clear and easy-to-understand definitions; the language should be simple and understandable. The new ILAE classification demonstrates revised definitions of well-known electroclinical epilepsy syndromes and proposes a new concept of defining epilepsy syndromes by their etiology (including those syndromes in which pathogenic mutations or structural changes correlate significantly with certain electroclinical phenotype). It also introduces a new etiology-defined class of epilepsy syndromes characterized by specific genetic, metabolic, and structural causes. The document does not cover therapy for epilepsy syndromes; however, for some of them, it specifies the most effective or potentially aggravating antiepileptic drugs. The prospect of further targeted gene therapies development and approval of antiepileptic drugs specific for certain epilepsy syndromes after randomized clinical trials had served as a powerful motivation to introduce the concept of epilepsy syndromes determined primarily by etiology. In conclusion, the authors discuss the Classification and Definition of Epilepsy Syndromes, propose their ideas, comments, suggestions, and observations. This article aims to familiarize a wide range of specialists with the new ILAE classification and its details. In addition to a detailed description of the abovementioned document, the article provides information on the currently existing classification principles for epilepsy and epileptic seizures. There is also a discussion with the authors’ comments on the ILAE Classification and Definition of Epilepsy Syndromes.
References
1. Berg A.T., Berkovic S.F., Brodie M.J. 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;51:676–85.
2. Camfield P., Camfield C. Incidence, prevalence and aetiology of seizures and epilepsy in children. Epileptic Disord 2015;17(2):117–23.
3. Caraballo R.H., Cersósimo R.O., Fejerman N. Late-onset, “Gastaut type”, childhood occipital epilepsy: an unusual evolution. Epileptic Disord 2005;7(4):341–6.
4. Caraballo R., Koutroumanidis M., Panayiotopoulos C.P., Fejerman N. Idiopathic childhood occipital epilepsy of gastaut: a review and differentiation from migraine and other epilepsies. J Child Neurol 2009;24(12):1536–42.
5. Doose H., Neubauer B.A., Petersen B. The concept of hereditary impairment of brain maturation. Epileptic Disord 2000;2(Suppl 1):45–9.
6. Doose H. EEG in childhood epilepsy. Hamburg: John Libbey, 2003. Pp. 191–243.
7. Fisher R.S., Acevedo C., Arzimanoglou A. et al. ILAE official report: a practical clinical definition of epilepsy. Epilepsia 2014;55:475–82.
8. Fisher R.S., Cross J.H., French J.A. et al. Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology. Epilepsia 2017:58(4):522–30.
9. Fisher R.S., Cross J.H., D’Souza C. et al. Instruction manual for the ILAE 2017 operational classification of seizure types. Epilepsia 2017;58(4):531–42.
10. Gómez-Porro P., Serrano A.A., Toledano R. et al. Genetic (idiopathic) generalized epilepsy with occipital semiology. Epileptic Disord 2018:20(5):434–9.
11. Hirsch E., French J., Scheffer I. et al. Definition of the Idiopathic Generalized Epilepsy Syndromes: Position Paper by the ILAE Task Force on Nosology and Definitions. Epilepsia 2021.
12. Hirsch E., French J., Scheffer I. et al. ILAE Definition of the Idiopathic Generalized Epilepsy Syndromes: Position Statement by the ILAE Task Force on Nosology and Definitions. Available at: https://www.ilae.org/files/dmfile/IGEFINALApril2.pdf.
13. Lee Y.J.H., Kang H.C., Lee J.S. et al. Resective pediatric epilepsy surgery in Lennox–Gastauts. Pediatrics 2010;125(1):e58–66.
14. Lüders H.-O., Acharya J., Baumgartner C. et al. Semiological seizure classification. Epilepsia 1998;39:1006–13.
15. Lüders H.-O., Akamatsu N., Amina S. et al. Critique of the 2017 epileptic seizure and epilepsy classifications. Epilepsia 2019;60(6):1032–9.
16. Mayo S., Gómez-Manjón I., FernándezMartínez F.J. et al. Candidate genes for Eyelid Myoclonia with Absences, review of the literature. Int J Mol Sci 2021;22:5609. DOI: 10.3390/ijms22115609.
17. Marco P., Tassinari C.A. Extreme Somatosensory Evoked Potential (ESEP): An EEG sign forecasting the possible occurrence of seizures in children. Epilepsia 1981;22(5):569–75.
18. Panayiotopoulos C., Bureau M., Caraballo R. et al. Idiopathic focal epilepsies in children. In: Epileptic syndromes in infancy, childhood and adolescence. 5th edn with video. Paris: John Libbey Eurotext, 2012. Pp. 217–254.
19. Pressler R.M., Cilio M.R., Mizrahi E.M. et al. The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia 2021;62:615–28.
20. Proposed Classification and Definition of Epilepsy Syndromes. Available at: https://www.ilae.org/guidelines/definition-and-classification/proposed-classification-and-definition-of-epilepsy-syndromes.
21. Riney K., Bogacz A., Somerville E. et al. ILAE Classification and Definition of Epilepsy Syndromes with Onset at a Variable Age: Position Statement by the ILAE Task Force on Nosology and Definitions. Available at: https://www.ilae.org/files/dmfile/Riney_VariableAges_7Apr21.pdf.
22. Sadleir L.G., Vears D., Reganet B. al. Family studies of individuals with eyelid myoclonia with absences. Epilepsia 2012;53(12):2141–8.
23. Scheffer I.E., Berkovic S., Capovilla G. et al. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia 2017;58(4):512–21.
24. Specchio N., Wirrell E.C., Scheffer I.E. et al. ILAE classification and definition of epilepsy syndromes with onset in childhood: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2021.
25. Specchio N., Wirrell E.C., Scheffer I.E. et al. ILAE Classification and Definition of Epilepsy Syndromes with Onset in Childhood: Position Paper by the ILAE Task Force on Nosology and Definitions. Available at: https://www.ilae.org/files/dmfile/CHILDApril6withfigs.pdf.
26. Tarta-Arsene O., Pieper T., Hartlieb T. et al. Overrepresentation of age-related epileptiform discharges in children with hemispheric epilepsy syndromes. Epilepsia 2015;56(Suppl S1):249.
27. Wirrell E.C., Nabbout R., Scheffer I.E. et al. Methodology for Classification and Definition of Epilepsy Syndromes: Report of the ILAE Task Force on Nosology and Definitions. Available at: https://www.ilae.org/files/dmfile/SyndromeMethodologyFINALMARCH29.pdf.
28. Wirrell E.S., Nabbout R., Scheffer I. et al. Methodology for Classification and Definition of Epilepsy Syndromes: Report of the ILAE Task Force on Nosology and Definitions. Epilepsia 2021.
29. Zuberi S.M., Wirrell E., Yozawitz E. et al. ILAE classification and definition of epilepsy syndromes in the neonate and infant: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2021.
30. Zuberi S.M., Wirrell E., Yozawitz E. et al. ILAE Classification & Definition of Epilepsy Syndromes in the Neonate and Infant: Position Statement by the ILAE Task Force on Nosology and Definitions. Available at: https://www.ilae.org/files/dmfile/Neonatal_Infantile_Finalapril5.pdf.
