1型神经纤维瘤病伴海马硬化及局灶性皮质发育不良癫痫手术治疗一例_Journal of Epilepsy

Authors：

谭新璐 ¹ , 乔启程 ¹ ,  李秋波 ²

1. ;
2. ;

Corresponding author：

李秋波, Email: lqb0072@126.com

Keywords：

1型神经纤维瘤病; 新生突变; 颞叶癫痫; 海马硬化; 皮层发育不良; 癫痫手术

DOI：

10.7507/2096-0247.202405005

Video：

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Abstract Full text Figures/Tables Video References Cited by

1.	梁嘉莉, 蔡妍, 李常兴. 1型神经纤维瘤病发病机制及治疗进展. 皮肤科学通报, 2024, 41(1): 70-78.
2.	Kallionpää RA, Uusitalo E, Leppävirta Jussi, et al. Prevalence of neurofibromatosis type 1 in the Finnish population. Genetics in Medicine, 2017, 20(9): 1082-1086.
3.	Kandt RS. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases. Neurologic Clinics, 2002, 20(4): 941-964.
4.	Messiaen LM , Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat, 2000, 15(6): 541-555.
5.	Eric L, Ludwine M, Pierre W, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine, 2021, 23(8): 1506-1513.
6.	François-Olivier D, Dalil H, Marine L, et al. Human splicing finder: an online bioinformatics tool to predict splicing signals. Nucleic acids research, 2009, 37(9): e67.
7.	Laura T, Mark R, Matthew M, et al. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. Hum Mutat, 2012, 33(12): 1687-1696.
8.	Yap YS, McPherson JR, Ong CK, et al. The NF1 gene revisited - from bench to bedside. Oncotarget, 2014, 5(15): 5873-5892.
9.	Barba C, Jacques T, Kahane P, et al. Epilepsy surgery in neurofibromatosis Type 1. Epilepsy Research, 2013, 105(3): 384-395.
10.	Ars E , Serra E, García J, et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Human Molecular Genetics, 2000, 9(2): 237-247.
11.	Ingmar B, Maria T, Eleonora A, 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.
12.	Runke M, Salanova V. Epilepsy due to a cortical malformation in a neurofibromatosis type 1 patient. Seizure, 2013, 22(6): 476-479.
13.	Hsueh YP, Roberts AM, VoltaM, et al. Bipartite interaction between neurofibromatosis type I protein (neurofibromin) and syndecan transmembrane heparan sulfate proteoglycans. The Journal of Neuroscience, 2001, 21(11): 3764-3770.
14.	Rodriguez FJ, Ligon AH, Horkayne-Szakaly I, et al. BRAF duplications and MAPK pathway activation are frequent in gliomas of the optic nerve proper. Journal of Neuropathology and Experimental Neurology, 2012, 71(9): 789-794.
15.	Sosunov AA, Wu XP, McGovern RA, et al. The mTOR pathway is activated in glial cells in mesial temporal sclerosis. Epilepsia, 2012, 53(Suppl1): 78-86.
16.	Violante IR, Miguel P, Inês B, et al. GABA deficiency in NF1: A multimodal [11C]-flumazenil and spectroscopy study. Neurology, 2016, 87(9): 897-904.
17.	Ren M, Li K, Wang D, et al. Neurofibromin regulates seizure attacks in the rat pilocarpine-induced model of epilepsy. Molecular neurobiology, 2016, 53(9): 6069-6077.
18.	Zhu Y, Romero MI, Ghosh P, et al. Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain. Genes & Development, 2001, 15(7): 859-876.
19.	刘妍, 袁裕衡, 马明圣, 等. NF1基因突变致1型神经纤维瘤病 8 例临床分析. 临床儿科杂志, 2016, 34(11): 819-824.
20.	Gales J, Prayson RA. Hippocampal sclerosis and associated focal cortical dysplasia-related epilepsy in neurofibromatosis type I. Journal of Clinical Neuroscience, 2016, 37: 15-19.
21.	Wimmer K, Roca X, Beiglböck H, et al. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice‐site disruption. Human Mutation, 2007, 28(6): 599-612.

1. 梁嘉莉, 蔡妍, 李常兴. 1型神经纤维瘤病发病机制及治疗进展. 皮肤科学通报, 2024, 41(1): 70-78.
2. Kallionpää RA, Uusitalo E, Leppävirta Jussi, et al. Prevalence of neurofibromatosis type 1 in the Finnish population. Genetics in Medicine, 2017, 20(9): 1082-1086.
3. Kandt RS. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases. Neurologic Clinics, 2002, 20(4): 941-964.
4. Messiaen LM , Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat, 2000, 15(6): 541-555.
5. Eric L, Ludwine M, Pierre W, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine, 2021, 23(8): 1506-1513.
6. François-Olivier D, Dalil H, Marine L, et al. Human splicing finder: an online bioinformatics tool to predict splicing signals. Nucleic acids research, 2009, 37(9): e67.
7. Laura T, Mark R, Matthew M, et al. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. Hum Mutat, 2012, 33(12): 1687-1696.
8. Yap YS, McPherson JR, Ong CK, et al. The NF1 gene revisited - from bench to bedside. Oncotarget, 2014, 5(15): 5873-5892.
9. Barba C, Jacques T, Kahane P, et al. Epilepsy surgery in neurofibromatosis Type 1. Epilepsy Research, 2013, 105(3): 384-395.
10. Ars E , Serra E, García J, et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Human Molecular Genetics, 2000, 9(2): 237-247.
11. Ingmar B, Maria T, Eleonora A, 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.
12. Runke M, Salanova V. Epilepsy due to a cortical malformation in a neurofibromatosis type 1 patient. Seizure, 2013, 22(6): 476-479.
13. Hsueh YP, Roberts AM, VoltaM, et al. Bipartite interaction between neurofibromatosis type I protein (neurofibromin) and syndecan transmembrane heparan sulfate proteoglycans. The Journal of Neuroscience, 2001, 21(11): 3764-3770.
14. Rodriguez FJ, Ligon AH, Horkayne-Szakaly I, et al. BRAF duplications and MAPK pathway activation are frequent in gliomas of the optic nerve proper. Journal of Neuropathology and Experimental Neurology, 2012, 71(9): 789-794.
15. Sosunov AA, Wu XP, McGovern RA, et al. The mTOR pathway is activated in glial cells in mesial temporal sclerosis. Epilepsia, 2012, 53(Suppl1): 78-86.
16. Violante IR, Miguel P, Inês B, et al. GABA deficiency in NF1: A multimodal [11C]-flumazenil and spectroscopy study. Neurology, 2016, 87(9): 897-904.
17. Ren M, Li K, Wang D, et al. Neurofibromin regulates seizure attacks in the rat pilocarpine-induced model of epilepsy. Molecular neurobiology, 2016, 53(9): 6069-6077.
18. Zhu Y, Romero MI, Ghosh P, et al. Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain. Genes & Development, 2001, 15(7): 859-876.
19. 刘妍, 袁裕衡, 马明圣, 等. NF1基因突变致1型神经纤维瘤病 8 例临床分析. 临床儿科杂志, 2016, 34(11): 819-824.
20. Gales J, Prayson RA. Hippocampal sclerosis and associated focal cortical dysplasia-related epilepsy in neurofibromatosis type I. Journal of Clinical Neuroscience, 2016, 37: 15-19.
21. Wimmer K, Roca X, Beiglböck H, et al. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice‐site disruption. Human Mutation, 2007, 28(6): 599-612.

Journal of Epilepsy

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