局灶性皮质发育不良与癫痫：局灶性皮质发育不良分类及诊断更新_Journal of Epilepsy

Authors：

甘亚静 ¹ , 李国艳 ¹ , 刘超 ¹ , 冯研 ¹ , 魏子涵 ¹ ,  邓艳春 ^1,2

1. ;
2. ;

Corresponding author：

邓艳春, Email: yanchund@fmmu.edu.cn

Keywords：

局灶性皮质发育不良; 癫痫; 分类; 诊断

DOI：

10.7507/2096-0247.202209014

Video：

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局灶性皮质发育不良（Focal cortical dysplasia，FCD）属于皮质发育畸形的一种，由神经元移行或增殖障碍所导致，是儿童难治性癫痫最常见的原因。2011年国际抗癫痫联盟对FCD进行了详细的分类，被广泛应用于临床诊断和研究。但随着遗传学和病理学的快速发展，学者们对该分类不断进行修订，并建议增加遗传学诊断内容，以获得基因型-表型的综合诊断。此外FCD的表型以及诊治方案也在不断的更新，本文对FCD分类方案的更新以及其发病机制、病理表现、临床表型、诊断和治疗的进展作一综述，以期为FCD的规范诊疗提供一定参考。

Citation： 甘亚静, 李国艳, 刘超, 冯研, 魏子涵, 邓艳春. 局灶性皮质发育不良与癫痫：局灶性皮质发育不良分类及诊断更新. Journal of Epilepsy, 2023, 9(1): 33-37. doi: 10.7507/2096-0247.202209014 Copy

1.	Taylor DC, Falconer MA, Bruton CJ, et al. Focal dysplasia of the cerebral cortex in epilepsy. Journal of Neurology, Neurosurgery, and Psychiatry, 1971, 34(4): 369-387.
2.	Bast T, Ramantani G, Seitz A, et al. Focal cortical dysplasia: prevalence, clinical presentation and epilepsy in children and adults. Acta Neurologica Scandinavica, 2006, 113(2): 72-81.
3.	Kloss S, Pieper T, Pannek H, et al. Epilepsy surgery in children with focal cortical dysplasia (FCD): results of long-term seizure outcome. Neuropediatrics, 2002, 33(1): 21-26.
4.	Blumcke I, Spreafico R, Haaker G, et al. Histopathological findings in brain tissue obtained during epilepsy surgery. The New England Journal of Medicine, 2017, 377(17): 1648-1656.
5.	Palmini A, Najm I, Avanzini G, et al. Terminology and classification of the cortical dysplasias. Neurology, 2004, 62(6 Suppl 3): S2-8.
6.	Blümcke I, Thom M, Aronica E, et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia, 2011, 52(1): 158-174.
7.	Wang D-D, Piao Y-S, Blumcke I, et al. A distinct clinicopathological variant of focal cortical dysplasia IIId characterized by loss of layer 4 in the occipital lobe in 12 children with remote hypoxic-ischemic injury. Epilepsia, 2017, 58(10): 1697-1705.
8.	Najm IM, Sarnat HB, Blümcke I. Review: The international consensus classification of Focal Cortical Dysplasia - a critical update 2018. Neuropathology and Applied Neurobiology, 2018, 44(1): 18-31.
9.	Blümcke I, Coras R, Busch RM, et al. Toward a better definition of focal cortical dysplasia: an iterative histopathological and genetic agreement trial. Epilepsia, 2021, 62(6): 1416-1428.
10.	Baldassari S, Ribierre T, Marsan E, et al. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathologica, 2019, 138(6): 885-900.
11.	Bonduelle T, Hartlieb T, Baldassari S, et al. Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Acta Neuropathologica Communications, 2021, 9(1): 3.
12.	Crino PB, Eberwine J. Cellular and molecular basis of cerebral dysgenesis. Journal of Neuroscience Research, 1997, 50(6): 907-916.
13.	Marin-Valencia I, Guerrini R, Gleeson JG. Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia, 2014, 55(7): 970-978.
14.	Chen J, Tsai V, Parker WE, et al. Detection of human papillomavirus in human focal cortical dysplasia type IIB. Annals of Neurology, 2012, 72(6): 881-892.
15.	Spangle JM, Münger K. The human papillomavirus type 16 E6 oncoprotein activates mTORC1 signaling and increases protein synthesis. Journal of Virology, 2010, 84(18): 9398-9407.
16.	Iffland PH, Carson V, Bordey A, et al. GATORopathies: the role of amino acid regulatory gene mutations in epilepsy and cortical malformations. Epilepsia, 2019, 60(11): 2163-2173.
17.	Kuchukhidze G, Wieselthaler-Hölzl A, Drexel M, et al. Calcium-binding proteins in focal cortical dysplasia. Epilepsia, 2015, 56(8): 1207-1216.
18.	Gong T, Liu Y, Chen Y, et al. Focal corticarl dysplasia in epilepsy is associated with GABA increase. NeuroImage. Clinical, 2021, 31: 102763.
19.	Zimmer TS, Ciriminna G, Arena A, et al. Chronic activation of anti-oxidant pathways and iron accumulation in epileptogenic malformations. Neuropathology and Applied Neurobiology, 2020, 46(6): 546-563.
20.	Barkovich AJ, Kuzniecky RI, Jackson GD, et al. A developmental and genetic classification for malformations of cortical development. Neurology, 2005, 65(12): 1873-1887.
21.	Widdess-Walsh P, Kellinghaus C, Jeha L, et al. Electro-clinical and imaging characteristics of focal cortical dysplasia: correlation with pathological subtypes. Epilepsy Research, 2005, 67(1–2): 25–33.
22.	Fujimoto A, Enoki H, Niimi K, et al. Epilepsy in patients with focal cortical dysplasia may be associated with autism spectrum disorder. Epilepsy & Behavior, 2021, 120: 107990.
23.	Krsek P, Pieper T, Karlmeier A, et al. Different presurgical characteristics and seizure outcomes in children with focal cortical dysplasia type I or II. Epilepsia, 2009, 50(1): 125-137.
24.	Chassoux F, Landré E, Mellerio C, et al. Type II focal cortical dysplasia: electroclinical phenotype and surgical outcome related to imaging. Epilepsia, 2012, 53(2): 349-358.
25.	Al Amrani F, Dudley R, Bello-Espinosa LE, et al. Intravenous immunoglobulin as a treatment for intractable epilepsy secondary to Focal Cortical Dysplasia: a Meta-analysis. Pediatric Neurology, 2017, 76: 79-81.
26.	Crino PB. Focal cortical dysplasia. Seminars in Neurology, 2015, 35(3): 201-208.
27.	Isler C, Kucukyuruk B, Ozkara C, et al. Comparison of clinical features and surgical outcome in focal cortical dysplasia type 1 and type 2. Epilepsy Research, 2017, 136: 130-136.
28.	Trattnig S, Bogner W, Gruber S, et al. Clinical applications at ultrahigh field (7 T). Where does it make the difference?. NMR in biomedicine, 2016, 29(9): 1316-1334.
29.	Bartolini E, Cosottini M, Costagli M, et al. Ultra-high-field targeted imaging of focal cortical dysplasia: the intracortical black line sign in type IIb. American Journal of Neuroradiology, 2019, 40(12): 2137-2142.
30.	Cendes F, Theodore WH, Brinkmann BH, et al. Neuroimaging of epilepsy. Handbook of Clinical Neurology, 2016, 136: 985-1014.
31.	Blümcke I. Neuropathology of focal epilepsies: a critical review. Epilepsy & Behavior, 2009, 15(1): 34-39.
32.	Thamcharoenvipas T, Takahashi Y, Kimura N, et al. Localizing and Lateralizing Value of Seizure Onset Pattern on Surface EEG in FCD Type II. Pediatric Neurology, 2022, 129: 48-54.
33.	Fauser S, Essang C, Altenmüller D-M, et al. Long-term seizure outcome in 211 patients with focal cortical dysplasia. Epilepsia, 2015, 56(1): 66-76.
34.	MacLean MA, Easton AS, Pickett GE. Focal cortical dysplasia type IIIb with oligodendroglioma in a seizure-free patient. The Canadian Journal of Neurological Sciences, 2018, 45(3): 360-362.
35.	Siedlecka M, Grajkowska W, Galus R, et al. Focal cortical dysplasia: Molecular disturbances and clinicopathological classification. International Journal of Molecular Medicine, 2016, 38(5): 1327-1337.
36.	Sisodiya SM, Martinian L, Scheffer GL, et al. Major vault protein, a marker of drug resistance, is upregulated in refractory epilepsy. Epilepsia, 2003, 44(11): 1388-1396.
37.	Sisodiya SM, Lin WR, Squier MV, et al. Multidrug-resistance protein 1 in focal cortical dysplasia. Lancet (London, England), 2001, 357(9249): 42-43.
38.	Guerrini R, Duchowny M, Jayakar P, et al. Diagnostic methods and treatment options for focal cortical dysplasia. Epilepsia, 2015, 56(11): 1669-1686.
39.	Kato M, Kada A, Shiraishi H, et al. Sirolimus for epileptic seizures associated with focal cortical dysplasia type II. Annals of Clinical and Translational Neurology, 2022, 9(2): 181-192.
40.	Lortie A, Plouin P, Chiron C, et al. Characteristics of epilepsy in focal cortical dysplasia in infancy. Epilepsy Research, 2002, 51(1–2): 133–145.
41.	Rowland NC, Englot DJ, Cage TA, et al. A meta-analysis of predictors of seizure freedom in the surgical management of focal cortical dysplasia. Journal of Neurosurgery, 2012, 116(5): 1035-1041.
42.	Choi SA, Kim SY, Kim H, et al. Surgical outcome and predictive factors of epilepsy surgery in pediatric isolated focal cortical dysplasia. Epilepsy Research, 2018, 139: 54-59.
43.	Giulioni M, Marucci G, Martinoni M, et al. Seizure outcome in surgically treated drug-resistant mesial temporal lobe epilepsy based on the recent histopathological classifications. Journal of Neurosurgery, 2013, 119(1): 37-47.
44.	Lamberink HJ, Otte WM, Blümcke I, et al. Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study. The Lancet. Neurology, 2020, 19(9): 748-757.
45.	Bourdillon P, Rheims S, Catenoix H, et al. Surgical techniques: Stereoelectroencephalography-guided radiofrequency-thermocoagulation (SEEG-guided RF-TC). Seizure, 2020, 77: 64-68.
46.	郭强, 谭红平, 陈俊喜, 等. 立体定向脑电图引导下的适形热凝治疗功能区局灶性皮质发育不良所致癫痫效果及安全性评价. 中华医学杂志, 2021, 101(41): 3393-3398.
47.	Mirza FA, Hall JA. Radiofrequency thermocoagulation in refractory focal epilepsy: the montreal neurological institute experience. The Canadian Journal of Neurological Sciences, 2021, 48(5): 626-639.
48.	Wicks RT, Jermakowicz WJ, Jagid R, et al. Laser interstitial thermal therapy for mesial temporal lobe epilepsy. Neurosurgery, 2016, 79(Suppl 1): S83–S91.
49.	Lewis EC, Weil AG, Duchowny M, et al. MR-guided laser interstitial thermal therapy for pediatric drug-resistant lesional epilepsy. Epilepsia, 2015, 56(10): 1590-1598.

1. Taylor DC, Falconer MA, Bruton CJ, et al. Focal dysplasia of the cerebral cortex in epilepsy. Journal of Neurology, Neurosurgery, and Psychiatry, 1971, 34(4): 369-387.
2. Bast T, Ramantani G, Seitz A, et al. Focal cortical dysplasia: prevalence, clinical presentation and epilepsy in children and adults. Acta Neurologica Scandinavica, 2006, 113(2): 72-81.
3. Kloss S, Pieper T, Pannek H, et al. Epilepsy surgery in children with focal cortical dysplasia (FCD): results of long-term seizure outcome. Neuropediatrics, 2002, 33(1): 21-26.
4. Blumcke I, Spreafico R, Haaker G, et al. Histopathological findings in brain tissue obtained during epilepsy surgery. The New England Journal of Medicine, 2017, 377(17): 1648-1656.
5. Palmini A, Najm I, Avanzini G, et al. Terminology and classification of the cortical dysplasias. Neurology, 2004, 62(6 Suppl 3): S2-8.
6. Blümcke I, Thom M, Aronica E, et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia, 2011, 52(1): 158-174.
7. Wang D-D, Piao Y-S, Blumcke I, et al. A distinct clinicopathological variant of focal cortical dysplasia IIId characterized by loss of layer 4 in the occipital lobe in 12 children with remote hypoxic-ischemic injury. Epilepsia, 2017, 58(10): 1697-1705.
8. Najm IM, Sarnat HB, Blümcke I. Review: The international consensus classification of Focal Cortical Dysplasia - a critical update 2018. Neuropathology and Applied Neurobiology, 2018, 44(1): 18-31.
9. Blümcke I, Coras R, Busch RM, et al. Toward a better definition of focal cortical dysplasia: an iterative histopathological and genetic agreement trial. Epilepsia, 2021, 62(6): 1416-1428.
10. Baldassari S, Ribierre T, Marsan E, et al. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathologica, 2019, 138(6): 885-900.
11. Bonduelle T, Hartlieb T, Baldassari S, et al. Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Acta Neuropathologica Communications, 2021, 9(1): 3.
12. Crino PB, Eberwine J. Cellular and molecular basis of cerebral dysgenesis. Journal of Neuroscience Research, 1997, 50(6): 907-916.
13. Marin-Valencia I, Guerrini R, Gleeson JG. Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia, 2014, 55(7): 970-978.
14. Chen J, Tsai V, Parker WE, et al. Detection of human papillomavirus in human focal cortical dysplasia type IIB. Annals of Neurology, 2012, 72(6): 881-892.
15. Spangle JM, Münger K. The human papillomavirus type 16 E6 oncoprotein activates mTORC1 signaling and increases protein synthesis. Journal of Virology, 2010, 84(18): 9398-9407.
16. Iffland PH, Carson V, Bordey A, et al. GATORopathies: the role of amino acid regulatory gene mutations in epilepsy and cortical malformations. Epilepsia, 2019, 60(11): 2163-2173.
17. Kuchukhidze G, Wieselthaler-Hölzl A, Drexel M, et al. Calcium-binding proteins in focal cortical dysplasia. Epilepsia, 2015, 56(8): 1207-1216.
18. Gong T, Liu Y, Chen Y, et al. Focal corticarl dysplasia in epilepsy is associated with GABA increase. NeuroImage. Clinical, 2021, 31: 102763.
19. Zimmer TS, Ciriminna G, Arena A, et al. Chronic activation of anti-oxidant pathways and iron accumulation in epileptogenic malformations. Neuropathology and Applied Neurobiology, 2020, 46(6): 546-563.
20. Barkovich AJ, Kuzniecky RI, Jackson GD, et al. A developmental and genetic classification for malformations of cortical development. Neurology, 2005, 65(12): 1873-1887.
21. Widdess-Walsh P, Kellinghaus C, Jeha L, et al. Electro-clinical and imaging characteristics of focal cortical dysplasia: correlation with pathological subtypes. Epilepsy Research, 2005, 67(1–2): 25–33.
22. Fujimoto A, Enoki H, Niimi K, et al. Epilepsy in patients with focal cortical dysplasia may be associated with autism spectrum disorder. Epilepsy & Behavior, 2021, 120: 107990.
23. Krsek P, Pieper T, Karlmeier A, et al. Different presurgical characteristics and seizure outcomes in children with focal cortical dysplasia type I or II. Epilepsia, 2009, 50(1): 125-137.
24. Chassoux F, Landré E, Mellerio C, et al. Type II focal cortical dysplasia: electroclinical phenotype and surgical outcome related to imaging. Epilepsia, 2012, 53(2): 349-358.
25. Al Amrani F, Dudley R, Bello-Espinosa LE, et al. Intravenous immunoglobulin as a treatment for intractable epilepsy secondary to Focal Cortical Dysplasia: a Meta-analysis. Pediatric Neurology, 2017, 76: 79-81.
26. Crino PB. Focal cortical dysplasia. Seminars in Neurology, 2015, 35(3): 201-208.
27. Isler C, Kucukyuruk B, Ozkara C, et al. Comparison of clinical features and surgical outcome in focal cortical dysplasia type 1 and type 2. Epilepsy Research, 2017, 136: 130-136.
28. Trattnig S, Bogner W, Gruber S, et al. Clinical applications at ultrahigh field (7 T). Where does it make the difference?. NMR in biomedicine, 2016, 29(9): 1316-1334.
29. Bartolini E, Cosottini M, Costagli M, et al. Ultra-high-field targeted imaging of focal cortical dysplasia: the intracortical black line sign in type IIb. American Journal of Neuroradiology, 2019, 40(12): 2137-2142.
30. Cendes F, Theodore WH, Brinkmann BH, et al. Neuroimaging of epilepsy. Handbook of Clinical Neurology, 2016, 136: 985-1014.
31. Blümcke I. Neuropathology of focal epilepsies: a critical review. Epilepsy & Behavior, 2009, 15(1): 34-39.
32. Thamcharoenvipas T, Takahashi Y, Kimura N, et al. Localizing and Lateralizing Value of Seizure Onset Pattern on Surface EEG in FCD Type II. Pediatric Neurology, 2022, 129: 48-54.
33. Fauser S, Essang C, Altenmüller D-M, et al. Long-term seizure outcome in 211 patients with focal cortical dysplasia. Epilepsia, 2015, 56(1): 66-76.
34. MacLean MA, Easton AS, Pickett GE. Focal cortical dysplasia type IIIb with oligodendroglioma in a seizure-free patient. The Canadian Journal of Neurological Sciences, 2018, 45(3): 360-362.
35. Siedlecka M, Grajkowska W, Galus R, et al. Focal cortical dysplasia: Molecular disturbances and clinicopathological classification. International Journal of Molecular Medicine, 2016, 38(5): 1327-1337.
36. Sisodiya SM, Martinian L, Scheffer GL, et al. Major vault protein, a marker of drug resistance, is upregulated in refractory epilepsy. Epilepsia, 2003, 44(11): 1388-1396.
37. Sisodiya SM, Lin WR, Squier MV, et al. Multidrug-resistance protein 1 in focal cortical dysplasia. Lancet (London, England), 2001, 357(9249): 42-43.
38. Guerrini R, Duchowny M, Jayakar P, et al. Diagnostic methods and treatment options for focal cortical dysplasia. Epilepsia, 2015, 56(11): 1669-1686.
39. Kato M, Kada A, Shiraishi H, et al. Sirolimus for epileptic seizures associated with focal cortical dysplasia type II. Annals of Clinical and Translational Neurology, 2022, 9(2): 181-192.
40. Lortie A, Plouin P, Chiron C, et al. Characteristics of epilepsy in focal cortical dysplasia in infancy. Epilepsy Research, 2002, 51(1–2): 133–145.
41. Rowland NC, Englot DJ, Cage TA, et al. A meta-analysis of predictors of seizure freedom in the surgical management of focal cortical dysplasia. Journal of Neurosurgery, 2012, 116(5): 1035-1041.
42. Choi SA, Kim SY, Kim H, et al. Surgical outcome and predictive factors of epilepsy surgery in pediatric isolated focal cortical dysplasia. Epilepsy Research, 2018, 139: 54-59.
43. Giulioni M, Marucci G, Martinoni M, et al. Seizure outcome in surgically treated drug-resistant mesial temporal lobe epilepsy based on the recent histopathological classifications. Journal of Neurosurgery, 2013, 119(1): 37-47.
44. Lamberink HJ, Otte WM, Blümcke I, et al. Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study. The Lancet. Neurology, 2020, 19(9): 748-757.
45. Bourdillon P, Rheims S, Catenoix H, et al. Surgical techniques: Stereoelectroencephalography-guided radiofrequency-thermocoagulation (SEEG-guided RF-TC). Seizure, 2020, 77: 64-68.
46. 郭强, 谭红平, 陈俊喜, 等. 立体定向脑电图引导下的适形热凝治疗功能区局灶性皮质发育不良所致癫痫效果及安全性评价. 中华医学杂志, 2021, 101(41): 3393-3398.
47. Mirza FA, Hall JA. Radiofrequency thermocoagulation in refractory focal epilepsy: the montreal neurological institute experience. The Canadian Journal of Neurological Sciences, 2021, 48(5): 626-639.
48. Wicks RT, Jermakowicz WJ, Jagid R, et al. Laser interstitial thermal therapy for mesial temporal lobe epilepsy. Neurosurgery, 2016, 79(Suppl 1): S83–S91.
49. Lewis EC, Weil AG, Duchowny M, et al. MR-guided laser interstitial thermal therapy for pediatric drug-resistant lesional epilepsy. Epilepsia, 2015, 56(10): 1590-1598.

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