Erken İnfantil Gelişimsel ve Epileptik Ensefalopati (EİGEE)
Özet
Uluslararası Epilepsi ile Savaş Derneği, 2022’de yenidoğan ve infantil dönemde başlayan epilepsileri gözden geçirerek, genellikle belirli etiyolojik nedenlerle ilişkilendirilen, benzer elektroklinik özelliklere sahip sendromları güncellemiş ve sınıflandırmıştır. Önceki sınıflamalarda yer alan, erken infantil epileptik ensefalopati (Ohtahara sendromu) ve erken miyoklonik ensefalopati sendromlarını da “erken infantil gelişimsel ve epileptik ensefalopati” olarak tek bir başlık altında yeniden tanımlanmıştır. Bu bölümde erken infantil gelişimsel ve epileptik ensefalopatilerin tanımı, klinik özellikleri, elektrofizyolojisi, tanısal yaklaşımı, etiyolojisi, genetiği, ve ayırıcı tanısı güncel literatür eşliğinde ayrıntılı olarak tartışılacaktır.
The International League Against Epilepsy reviewed neonatal and infantile-onset epilepsies in 2022, updating and classifying syndromes with similar electroclinical features that are generally associated with certain etiological causes. Early infantile epileptic encephalopathy (Ohtahara syndrome) and early myoclonic encephalopathy syndromes, which were included in the previous classifications, have been redefined under a single title as "early infantile developmental and epileptic encephalopathy". In this chapter, the definition, clinical features, electrophysiology, diagnostic approach, etiology, genetics, and differential diagnosis of early infantile developmental and epileptic encephalopathies will be discussed in detail in light of current literature.
Referanslar
Wirrell E, Tinuper P, Perucca E, Moshé SL. Introduction to the epilepsy syndrome papers. Epilepsia. 2022;63(6):1330-1332. doi:10.1111/EPI.17262
Djukic Aleksandra A, Ladoa FA, Shinnar S, Moshé SL. Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? Epilepsy Res. 2006;70(SUPPL.1):68-76. doi:10.1016/J.EPLEPSYRES.2005.11.022
Olson HE, Kelly M, LaCoursiere CM, et al. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017;81(3):419. doi:10.1002/ANA.24883
Yamamoto H, Okumura A, Fukuda M. Epilepsies and epileptic syndromes starting in the neonatal period. Brain Dev. 2011;33(3):213-220. doi:10.1016/j.braindev.2010.10.009
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 |. 23 | Solomon L Moshé. 2022;63:26. doi:10.1111/epi.17239
Symonds JD, Elliott KS, Shetty J, et al. Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain. 2021;144(9):2879. doi:10.1093/BRAIN/AWAB162
Howell KB, Freeman JL, Mackay MT, et al. The severe epilepsy syndromes of infancy: A population-based study. Epilepsia. 2021;62(2):358-370. doi:10.1111/EPI.16810
Fusco L, Pachatz C, Di Capua M, Vigevano F. Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). Brain Dev. 2001;23(7):708-714. doi:10.1016/S0387-7604(01)00280-7
Pearl PL. Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016;23(2):158-166. doi:10.1016/J.SPEN.2016.06.004
Wolff M, Johannesen KM, Hedrich UBS, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017;140(5):1316-1336. doi:10.1093/BRAIN/AWX054
Howell KB, McMahon JM, Carvill GL, et al. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015;85(11):958-966. doi:10.1212/WNL.0000000000001926
Radaelli G, De F, Santos S, et al. Causes of mortality in early infantile epileptic encephalopathy: A systematic review. Epilepsy & Behavior. 2018;85:32-36. doi:10.1016/j.yebeh.2018.05.015
Pressler RM, Cilio MR, Mizrahi EM, 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(3):615-628. doi:10.1111/EPI.16815
Bayat A, Bayat M, Rubboli G, Møller RS. Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy. Genes (Basel). 2021;12(7). doi:10.3390/GENES12071051
Pearl PL. Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016;23(2):158-166. doi:10.1016/J.SPEN.2016.06.004
Kim EH, Shin J, Lee BK. Neonatal seizures: diagnostic updates based on new definition and classification. Clin Exp Pediatr. 2022;65(8):387-397. doi:10.3345/cep.2021.01361
Olson HE, Kelly M, LaCoursiere CM, et al. Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017;81(3):419-429. doi:10.1002/ana.24883
Bayat A, Bayat M, Rubboli G, Møller RS. Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy. Genes (Basel). 2021;12(7). doi:10.3390/genes12071051
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(8). doi:10.3390/ijms22084202
Kim HJ, Yang D, Kim SH, et al. Clinical characteristics of KCNQ2 encephalopathy. Brain Dev. 2021;43(2):244-250. doi:10.1016/j.braindev.2020.08.015
Stamberger H, Nikanorova M, Willemsen MH, et al. STXBP1 encephalopathy. Neurology. 2016;86(10):954-962. doi:10.1212/WNL.0000000000002457
Numis AL, Nair U, Datta AN, et al. Lack of response to quinidine in KCNT1-related neonatal epilepsy. Epilepsia. 2018;59(10):1889-1898. doi:10.1111/epi.14551
Trollmann R. Neuromonitoring in Neonatal-Onset Epileptic Encephalopathies. Front Neurol. 2021;12. doi:10.3389/fneur.2021.623625
Lim CX, Ricos MG, Dibbens LM, Heron SE. KCNT1 mutations in seizure disorders: The phenotypic spectrum and functional effects. J Med Genet. 2016;53(4):217-225. doi:10.1136/jmedgenet-2015-103508
Kim HJ, Yang D, Kim SH, et al. Genetic and clinical features of SCN8A developmental and epileptic encephalopathy. Epilepsy Res. 2019;158. doi:10.1016/j.eplepsyres.2019.106222
Meisler MH, Helman G, Hammer MF, et al. SCN8A encephalopathy: Research progress and prospects. Epilepsia. 2016;57(7):1027-1035. doi:10.1111/epi.13422
Chitre M, Nahorski MS, Stouffer K, et al. PEHO syndrome: the endpoint of different genetic epilepsies. J Med Genet. 2018;55(12):803-813. doi:10.1136/JMEDGENET-2018-105288
Referanslar
Wirrell E, Tinuper P, Perucca E, Moshé SL. Introduction to the epilepsy syndrome papers. Epilepsia. 2022;63(6):1330-1332. doi:10.1111/EPI.17262
Djukic Aleksandra A, Ladoa FA, Shinnar S, Moshé SL. Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? Epilepsy Res. 2006;70(SUPPL.1):68-76. doi:10.1016/J.EPLEPSYRES.2005.11.022
Olson HE, Kelly M, LaCoursiere CM, et al. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017;81(3):419. doi:10.1002/ANA.24883
Yamamoto H, Okumura A, Fukuda M. Epilepsies and epileptic syndromes starting in the neonatal period. Brain Dev. 2011;33(3):213-220. doi:10.1016/j.braindev.2010.10.009
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 |. 23 | Solomon L Moshé. 2022;63:26. doi:10.1111/epi.17239
Symonds JD, Elliott KS, Shetty J, et al. Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain. 2021;144(9):2879. doi:10.1093/BRAIN/AWAB162
Howell KB, Freeman JL, Mackay MT, et al. The severe epilepsy syndromes of infancy: A population-based study. Epilepsia. 2021;62(2):358-370. doi:10.1111/EPI.16810
Fusco L, Pachatz C, Di Capua M, Vigevano F. Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). Brain Dev. 2001;23(7):708-714. doi:10.1016/S0387-7604(01)00280-7
Pearl PL. Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016;23(2):158-166. doi:10.1016/J.SPEN.2016.06.004
Wolff M, Johannesen KM, Hedrich UBS, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017;140(5):1316-1336. doi:10.1093/BRAIN/AWX054
Howell KB, McMahon JM, Carvill GL, et al. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015;85(11):958-966. doi:10.1212/WNL.0000000000001926
Radaelli G, De F, Santos S, et al. Causes of mortality in early infantile epileptic encephalopathy: A systematic review. Epilepsy & Behavior. 2018;85:32-36. doi:10.1016/j.yebeh.2018.05.015
Pressler RM, Cilio MR, Mizrahi EM, 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(3):615-628. doi:10.1111/EPI.16815
Bayat A, Bayat M, Rubboli G, Møller RS. Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy. Genes (Basel). 2021;12(7). doi:10.3390/GENES12071051
Pearl PL. Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016;23(2):158-166. doi:10.1016/J.SPEN.2016.06.004
Kim EH, Shin J, Lee BK. Neonatal seizures: diagnostic updates based on new definition and classification. Clin Exp Pediatr. 2022;65(8):387-397. doi:10.3345/cep.2021.01361
Olson HE, Kelly M, LaCoursiere CM, et al. Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017;81(3):419-429. doi:10.1002/ana.24883
Bayat A, Bayat M, Rubboli G, Møller RS. Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy. Genes (Basel). 2021;12(7). doi:10.3390/genes12071051
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(8). doi:10.3390/ijms22084202
Kim HJ, Yang D, Kim SH, et al. Clinical characteristics of KCNQ2 encephalopathy. Brain Dev. 2021;43(2):244-250. doi:10.1016/j.braindev.2020.08.015
Stamberger H, Nikanorova M, Willemsen MH, et al. STXBP1 encephalopathy. Neurology. 2016;86(10):954-962. doi:10.1212/WNL.0000000000002457
Numis AL, Nair U, Datta AN, et al. Lack of response to quinidine in KCNT1-related neonatal epilepsy. Epilepsia. 2018;59(10):1889-1898. doi:10.1111/epi.14551
Trollmann R. Neuromonitoring in Neonatal-Onset Epileptic Encephalopathies. Front Neurol. 2021;12. doi:10.3389/fneur.2021.623625
Lim CX, Ricos MG, Dibbens LM, Heron SE. KCNT1 mutations in seizure disorders: The phenotypic spectrum and functional effects. J Med Genet. 2016;53(4):217-225. doi:10.1136/jmedgenet-2015-103508
Kim HJ, Yang D, Kim SH, et al. Genetic and clinical features of SCN8A developmental and epileptic encephalopathy. Epilepsy Res. 2019;158. doi:10.1016/j.eplepsyres.2019.106222
Meisler MH, Helman G, Hammer MF, et al. SCN8A encephalopathy: Research progress and prospects. Epilepsia. 2016;57(7):1027-1035. doi:10.1111/epi.13422
Chitre M, Nahorski MS, Stouffer K, et al. PEHO syndrome: the endpoint of different genetic epilepsies. J Med Genet. 2018;55(12):803-813. doi:10.1136/JMEDGENET-2018-105288
