Advances in surgical treatment of early-infantile development epileptic encephalopathy_Journal of Epilepsy

Authors：

LIU Yidi ,  CAO Dezhi

Epilepsy Center, Shenzhen children’s Hospital, Shenzhen 518038, China;

Corresponding author：

CAO Dezhi, Email: caodezhi888@aliyun.com

Keywords：

Early-infantile; Developmental and Epileptic Encephalopathies; Psychomotor developmental delay; Surgical treatment

DOI：

10.7507/2096-0247.202308009

Video：

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Severe psychomotor developmental delay resulting from early postnatal (within 3 months) seizures can be diagnosed as Early-Infantile Developmental and Epileptic encephalopathies (EIDEE). Its primary etiologies include structural, hereditary, metabolic and etc. The main pathogenesis may be related to the inhibition of normal physiological activity of the brain by abnormal electrical activity and the damage of the brain neural network. Ohtahara syndrome and Early Myoclonic Encephalopathy (EME) are typical types of EIDEE. The principle of treatment is to improve the cognitive and developmental function by controlling frequent seizures. When the seizure is difficult to control with drugs, surgical evaluation should be performed as soon as possible, and surgical treatment is the first choice for patients suitable for surgery. The types of surgery can be divided into excision surgery, dissociation surgery, neuromodulation surgery and etc. The current status of surgical treatment of EIDEE was described, and the curative effect of surgical treatment was explored, so as to help clinicians choose appropriate treatment methods.

Citation： LIU Yidi, CAO Dezhi. Advances in surgical treatment of early-infantile development epileptic encephalopathy. Journal of Epilepsy, 2023, 9(6): 482-486. doi: 10.7507/2096-0247.202308009 Copy

1.	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(4): 676-685.
2.	Capovilla G, Wolf P, Beccaria F, et al. The history of the concept of epileptic encephalopathy. Epilepsia, 2013, 54(Suppl 8): 2-5.
3.	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(4): 512-521.
4.	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(6): 1349-1397.
5.	Beal JC, Cherian K, Moshe SL. Early-onset epileptic encephalopathies: ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol, 2012, 47(5): 317-323.
6.	Hwang SK, Kwon S. Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes. Korean J Pediatr, 2015, 58(11): 407-414.
7.	Nieh SE, Sherr EH. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics, 2014, 11(4): 796-806.
8.	Yelin K, Alfonso I, Papazian O. Syndrome of Ohtahara. Rev Neurol, 1999, 29(4): 340-342.
9.	Knezević-Pogancev M. Ohtahara syndrome--early infantile epileptic encephalopathy. Med Pregl, 2008, 61(11-12): 581-585.
10.	Liu CT, Yin F, Huang R, et al. The clinical and electroencephalographic characteristics of early myoclonic encephalopathy. Chinese Journal of Pediatrics, 2012, 50(12): 899-902.
11.	Otani K, Abe J, Futagi Y, et al. Clinical and electroencephalographical follow-up study of early myoclonic encephalopathy. Brain Dev, 1989, 11(5): 332-337.
12.	Go CY, Mackay MT, Weiss SK, et al. Evidence-based guideline update: medical treatment of infantile spasms. Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology, 2012, 78(24): 1974-1980.
13.	Coppola G. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia, 2009, 50(Suppl 5): 49-51.
14.	Elia M. Myoclonic status in nonprogressive encephalopathies: an update. Epilepsia, 2009, 50(Suppl 5): 41-44.
15.	Wei CM, Xia GZ, Ren RN. Gene mutations in unexplained infantile epileptic encephalopathy: an analysis of 47 cases. Chinese Journal of Contemporary Pediatrics, 2018, 20(2): 125-129.
16.	Archer HL, Evans J, Edwards S, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet, 2006, 43(9): 729-734.
17.	Melani F, Mei D, Pisano T, et al. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol, 2011, 53(4): 354-360.
18.	Na JH, Shin S, Yang D, et al. Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy. Brain Dev, 2020, 42(6): 438-448.
19.	Stringer RN, Jurkovicova-Tarabova B, Souza IA, et al. De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy. Mol Brain, 2021, 14(1): 126.
20.	Becker F, Reid CA, Hallmann K, et al. Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy. Epilepsia Open, 2017, 2(3): 334-342.
21.	Eckle VS, Shcheglovitov A, Vitko I, et al. Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility. J Physiol, 2014, 592(4): 795-809.
22.	Kodera H, Ohba C, Kato M, et al. De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia, 2016, 57(4): 566-573.
23.	Zaman T, Helbig I, Božović IB, et al. Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol, 2018, 83(4): 703-717.
24.	Kleen JK, Scott RC, Lenck-Santini PP, et al. Cognitive and behavioral co-morbidities of epilepsy. Jasper's Basic Mechanisms of the Epilepsies ( 4th ed. ): 1355–1376.
25.	Howell KB, Harvey AS, Archer JS. Epileptic encephalopathy: use and misuse of a clinically and conceptually important concept. Epilepsia, 2016, 57(3): 343-347.
26.	Holmes GL. Cognitive impairment in epilepsy: the role of network abnormalities. Epileptic Disord, 2015, 17(2): 101-116.
27.	McNaughton N, Ruan M, Woodnorth MA. Restoring theta-like rhythmicity in rats restores initial learning in the Morris water maze. Hippocampus, 2006, 16(12): 1102-1110.
28.	Roth J, Constantini S, Ekstein M, et al. Epilepsy surgery in infants up to 3 months of age: Safety, feasibility, and outcomes: a multicenter, multinational study. Epilepsia, 2021, 62(8): 1897-1906.
29.	Bittar RG, Rosenfeld JV, Klug GL, et al. Resective surgery in infants and young children with intractable epilepsy. J Clin Neurosci, 2002, 9(2): 142-146.
30.	Gowda S, Salazar F, Bingaman WE, et al. Surgery for catastrophic epilepsy in infants 6 months of age and younger. J Neurosurg Pediatr, 2010, 5(6): 603-607.
31.	Kumar RM, Koh S, Knupp K, et al. Surgery for infants with catastrophic epilepsy: an analysis of complications and efficacy. Childs Nerv Syst, 2015, 31(9): 1479-1491.
32.	Engel J Jr. The current place of epilepsy surgery. Curr Opin Neurol, 2018, 31(2): 192-197.
33.	Jayalakshmi S, Vooturi S, Gupta S, et al. Epilepsy surgery in children. Neurol India, 2017, 65(3): 485-492.
34.	Arya R, Wilson JA, Fujiwara H, et al. Presurgical language localization with visual naming associated ECoG high- gamma modulation in pediatric drug-resistant epilepsy. Epilepsia, 2017, 58(4): 663-673.
35.	Kim JS, Park EK, Shim KW, et al. Hemispherotomy and functional hemispherectomy: indications and outcomes. J Epilepsy Res, 2018, 8(1): 1-5.
36.	Malik SI, Galliani CA, Hernandez AW, et al. Epilepsy surgery for early infantile epileptic encephalopathy (ohtahara syndrome). J Child Neurol, 2013, 28(12): 1607-1617.
37.	Kishima H, Oshino S, Tani N, et al. Which is the most appropriate disconnection surgery for refractory epilepsy in childhood? Neurol Med Chir (Tokyo), 2013, 53(11): 814-820.
38.	Weckhuysen S, Holmgren P, Hendrickx R, et al. Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Epilepsia, 2013, 54(5): e74-80.
39.	Spencer DD and Spencer SS, Corpus callosotomy in the treatment of medically intractable secondarily generalized seizures of children. Cleve Clin J Med, 1989, 56(Suppl Pt 1): S69-78; discussion S79-83.
40.	Nordgren RE, Reeves AG, Viguera AC, et al. Corpus callosotomy for intractable seizures in the pediatric age group. Arch Neurol, 1991, 48(4): 364-372.
41.	Iwasaki M, Uematsu M, Sato Y, et al. Complete remission of seizures after corpus callosotomy. J Neurosurg Pediatr, 2012, 10(1): 7-13.
42.	Moreira-Holguín JC, Barahona-Morán DA, Hidalgo-Esmeraldas J, et al. Neuromodulation of the anterior thalamic nucleus as a therapeutic option for difficult-to-control epilepsy. Neurocirugia (Astur : Engl Ed), 2022, 33(4): 182-189.
43.	Zhou JJ, Chen T, Farber SH, et al. Open-loop deep brain stimulation for the treatment of epilepsy: a systematic review of clinical outcomes over the past decade (2008-present). Neurosurg Focus, 2018, 45(2): E5.
44.	Li MCH, Cook MJ. Deep brain stimulation for drug-resistant epilepsy. Epilepsia, 2018, 59(2): 273-290.
45.	Yan H, Toyota E, Anderson M, et al. A systematic review of deep brain stimulation for the treatment of drug-resistant epilepsy in childhood. J Neurosurg Pediatr, 2018, 23(3): 274-284.
46.	Guo W, Koo BB, Kim JH, et al. Defining the optimal target for anterior thalamic deep brain stimulation in patients with drug-refractory epilepsy. J Neurosurg, 2020, 134(3): 1054-1063.
47.	Rutecki P. Anatomical, physiological, and theoretical basis for the antiepileptic effect of vagus nerve stimulation. Epilepsia, 1990, 31(Suppl 2): S1-6.
48.	Zamponi N, Rychlicki F, Corpaci L, et al. Vagus nerve stimulation (VNS) is effective in treating catastrophic 1 epilepsy in very young children. Neurosurg Rev, 2008, 31(3): 291-297.
49.	So EL. Integration of EEG, MRI, and SPECT in localizing the seizure focus for epilepsy surgery. Epilepsia, 2000, 41(Suppl 3): S48-54.
50.	Kun Lee S, Young Lee S, Kim DW, et al. Occipital lobe epilepsy: clinical characteristics, surgical outcome, and role of diagnostic modalities. Epilepsia, 2005, 46(5): 688-695.
51.	Alim-Marvasti A, Romagnoli G, Dahele K, et al. Probabilistic landscape of seizure semiology localizing values. Brain Commun, 2022, 4(3): fcac130.
52.	Bayat A, Bayat M, Rubboli G, et al. Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy. Genes (Basel), 2021, 12(7): 1051.

1. 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(4): 676-685.
2. Capovilla G, Wolf P, Beccaria F, et al. The history of the concept of epileptic encephalopathy. Epilepsia, 2013, 54(Suppl 8): 2-5.
3. 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(4): 512-521.
4. 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(6): 1349-1397.
5. Beal JC, Cherian K, Moshe SL. Early-onset epileptic encephalopathies: ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol, 2012, 47(5): 317-323.
6. Hwang SK, Kwon S. Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes. Korean J Pediatr, 2015, 58(11): 407-414.
7. Nieh SE, Sherr EH. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics, 2014, 11(4): 796-806.
8. Yelin K, Alfonso I, Papazian O. Syndrome of Ohtahara. Rev Neurol, 1999, 29(4): 340-342.
9. Knezević-Pogancev M. Ohtahara syndrome--early infantile epileptic encephalopathy. Med Pregl, 2008, 61(11-12): 581-585.
10. Liu CT, Yin F, Huang R, et al. The clinical and electroencephalographic characteristics of early myoclonic encephalopathy. Chinese Journal of Pediatrics, 2012, 50(12): 899-902.
11. Otani K, Abe J, Futagi Y, et al. Clinical and electroencephalographical follow-up study of early myoclonic encephalopathy. Brain Dev, 1989, 11(5): 332-337.
12. Go CY, Mackay MT, Weiss SK, et al. Evidence-based guideline update: medical treatment of infantile spasms. Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology, 2012, 78(24): 1974-1980.
13. Coppola G. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia, 2009, 50(Suppl 5): 49-51.
14. Elia M. Myoclonic status in nonprogressive encephalopathies: an update. Epilepsia, 2009, 50(Suppl 5): 41-44.
15. Wei CM, Xia GZ, Ren RN. Gene mutations in unexplained infantile epileptic encephalopathy: an analysis of 47 cases. Chinese Journal of Contemporary Pediatrics, 2018, 20(2): 125-129.
16. Archer HL, Evans J, Edwards S, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet, 2006, 43(9): 729-734.
17. Melani F, Mei D, Pisano T, et al. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol, 2011, 53(4): 354-360.
18. Na JH, Shin S, Yang D, et al. Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy. Brain Dev, 2020, 42(6): 438-448.
19. Stringer RN, Jurkovicova-Tarabova B, Souza IA, et al. De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy. Mol Brain, 2021, 14(1): 126.
20. Becker F, Reid CA, Hallmann K, et al. Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy. Epilepsia Open, 2017, 2(3): 334-342.
21. Eckle VS, Shcheglovitov A, Vitko I, et al. Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility. J Physiol, 2014, 592(4): 795-809.
22. Kodera H, Ohba C, Kato M, et al. De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia, 2016, 57(4): 566-573.
23. Zaman T, Helbig I, Božović IB, et al. Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol, 2018, 83(4): 703-717.
24. Kleen JK, Scott RC, Lenck-Santini PP, et al. Cognitive and behavioral co-morbidities of epilepsy. Jasper's Basic Mechanisms of the Epilepsies ( 4th ed. ): 1355–1376.
25. Howell KB, Harvey AS, Archer JS. Epileptic encephalopathy: use and misuse of a clinically and conceptually important concept. Epilepsia, 2016, 57(3): 343-347.
26. Holmes GL. Cognitive impairment in epilepsy: the role of network abnormalities. Epileptic Disord, 2015, 17(2): 101-116.
27. McNaughton N, Ruan M, Woodnorth MA. Restoring theta-like rhythmicity in rats restores initial learning in the Morris water maze. Hippocampus, 2006, 16(12): 1102-1110.
28. Roth J, Constantini S, Ekstein M, et al. Epilepsy surgery in infants up to 3 months of age: Safety, feasibility, and outcomes: a multicenter, multinational study. Epilepsia, 2021, 62(8): 1897-1906.
29. Bittar RG, Rosenfeld JV, Klug GL, et al. Resective surgery in infants and young children with intractable epilepsy. J Clin Neurosci, 2002, 9(2): 142-146.
30. Gowda S, Salazar F, Bingaman WE, et al. Surgery for catastrophic epilepsy in infants 6 months of age and younger. J Neurosurg Pediatr, 2010, 5(6): 603-607.
31. Kumar RM, Koh S, Knupp K, et al. Surgery for infants with catastrophic epilepsy: an analysis of complications and efficacy. Childs Nerv Syst, 2015, 31(9): 1479-1491.
32. Engel J Jr. The current place of epilepsy surgery. Curr Opin Neurol, 2018, 31(2): 192-197.
33. Jayalakshmi S, Vooturi S, Gupta S, et al. Epilepsy surgery in children. Neurol India, 2017, 65(3): 485-492.
34. Arya R, Wilson JA, Fujiwara H, et al. Presurgical language localization with visual naming associated ECoG high- gamma modulation in pediatric drug-resistant epilepsy. Epilepsia, 2017, 58(4): 663-673.
35. Kim JS, Park EK, Shim KW, et al. Hemispherotomy and functional hemispherectomy: indications and outcomes. J Epilepsy Res, 2018, 8(1): 1-5.
36. Malik SI, Galliani CA, Hernandez AW, et al. Epilepsy surgery for early infantile epileptic encephalopathy (ohtahara syndrome). J Child Neurol, 2013, 28(12): 1607-1617.
37. Kishima H, Oshino S, Tani N, et al. Which is the most appropriate disconnection surgery for refractory epilepsy in childhood? Neurol Med Chir (Tokyo), 2013, 53(11): 814-820.
38. Weckhuysen S, Holmgren P, Hendrickx R, et al. Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Epilepsia, 2013, 54(5): e74-80.
39. Spencer DD and Spencer SS, Corpus callosotomy in the treatment of medically intractable secondarily generalized seizures of children. Cleve Clin J Med, 1989, 56(Suppl Pt 1): S69-78; discussion S79-83.
40. Nordgren RE, Reeves AG, Viguera AC, et al. Corpus callosotomy for intractable seizures in the pediatric age group. Arch Neurol, 1991, 48(4): 364-372.
41. Iwasaki M, Uematsu M, Sato Y, et al. Complete remission of seizures after corpus callosotomy. J Neurosurg Pediatr, 2012, 10(1): 7-13.
42. Moreira-Holguín JC, Barahona-Morán DA, Hidalgo-Esmeraldas J, et al. Neuromodulation of the anterior thalamic nucleus as a therapeutic option for difficult-to-control epilepsy. Neurocirugia (Astur : Engl Ed), 2022, 33(4): 182-189.
43. Zhou JJ, Chen T, Farber SH, et al. Open-loop deep brain stimulation for the treatment of epilepsy: a systematic review of clinical outcomes over the past decade (2008-present). Neurosurg Focus, 2018, 45(2): E5.
44. Li MCH, Cook MJ. Deep brain stimulation for drug-resistant epilepsy. Epilepsia, 2018, 59(2): 273-290.
45. Yan H, Toyota E, Anderson M, et al. A systematic review of deep brain stimulation for the treatment of drug-resistant epilepsy in childhood. J Neurosurg Pediatr, 2018, 23(3): 274-284.
46. Guo W, Koo BB, Kim JH, et al. Defining the optimal target for anterior thalamic deep brain stimulation in patients with drug-refractory epilepsy. J Neurosurg, 2020, 134(3): 1054-1063.
47. Rutecki P. Anatomical, physiological, and theoretical basis for the antiepileptic effect of vagus nerve stimulation. Epilepsia, 1990, 31(Suppl 2): S1-6.
48. Zamponi N, Rychlicki F, Corpaci L, et al. Vagus nerve stimulation (VNS) is effective in treating catastrophic 1 epilepsy in very young children. Neurosurg Rev, 2008, 31(3): 291-297.
49. So EL. Integration of EEG, MRI, and SPECT in localizing the seizure focus for epilepsy surgery. Epilepsia, 2000, 41(Suppl 3): S48-54.
50. Kun Lee S, Young Lee S, Kim DW, et al. Occipital lobe epilepsy: clinical characteristics, surgical outcome, and role of diagnostic modalities. Epilepsia, 2005, 46(5): 688-695.
51. Alim-Marvasti A, Romagnoli G, Dahele K, et al. Probabilistic landscape of seizure semiology localizing values. Brain Commun, 2022, 4(3): fcac130.
52. Bayat A, Bayat M, Rubboli G, et al. Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy. Genes (Basel), 2021, 12(7): 1051.

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