生酮饮食治疗<i>RHOBTB2</i>基因相关发育性癫痫性脑病一例并文献复习_Journal of Epilepsy

Authors：

张欢 , 张童 , 刘勇 , 金瑞峰 ,  ZHANG Hongwei

山东大学附属儿童医院（济南市儿童医院）癫痫中心（济南 250022）;

Corresponding author：

ZHANG Hongwei, Email: zhw850510@163.com

Keywords：

RHOBTB2基因; 发育性癫痫性脑病64型; 生酮饮食

DOI：

10.7507/2096-0247.202306007

Video：

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Citation： ZHANG Hongwei. 生酮饮食治疗RHOBTB2基因相关发育性癫痫性脑病一例并文献复习. Journal of Epilepsy, 2023, 9(5): 447-450. doi: 10.7507/2096-0247.202306007 Copy

1.	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.
2.	SpecchioN, Curatolo P. Developmental and epileptic encephalopathies: what we do and do not know. Brain, 2021, 144(1): 32-43.
3.	Straub J, Konrad EDH, Grüner J, et al. Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila. Am J Hum Genet, 2018, 102: 44–57.
4.	Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17(5): 405-424.
5.	向秋莲, 郭虎, 高修成, 等. RHOBTB2基因突变致癫痫性脑病1例病例报告并文献复习. 中国循证儿科杂志, 2022, 17(1): 75-78.
6.	李欣, 王磊, 马爱华. RHOBTB2基因突变致癫痫性脑病1例并文献复习. 中华实用儿科临床杂志, 2022, 37(3): 224-226.
7.	刘明, 丁昌红, 陈春红, 等. 以癫痫脑病为主要表现的RHOBTB2基因相关疾病1例. 中华儿科杂志, 2022, 60(3): 242-243.
8.	Spagnoli C, Soliani L, Caraffi SG, et al. Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy. Parkinsonism Relat Disord, 2020, 76: 54-55.
9.	Belal H, Nakashima M, Matsumoto H, et al. De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy. Hum Mutat. 2018, 39(8): 1070-1075.
10.	Defo A, Verloes A, Elenga N. Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: a case report from French Guiana. Mol Genet Genomic Med, 2022, 10(6): e1929.
11.	Necpál J, Zech M, Valachová A, et al. Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier. Parkinsonism Relat Disord, 2020, 77: 87-88.
12.	Knijnenburg ACS, Nicolai J, Bok LA, et al. Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation. Neurol Genet, 2020, 6(3): e418.
13.	Zagaglia S, Steel D, Krithika S, et al. RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood. Neurology, 2021, 96(11): e1539-e1550.
14.	Lopes F, Barbosa M, Ameur A, et al. Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet, 2016, 53(3): 190-199.
15.	Niu X, Sun Y, Yang Y, et al. RHOBTB2 gene associated epilepsy and paroxysmal movement disorder: two cases report and literature review. Acta Epileptologica, 2021, 3(1).
16.	Hamaguchi M, Meth JL, von Klitzing C, et al. DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A, 2002, 99(21): 13647-13652.
17.	Choi YM, Kim KB, Lee JH, et al. DBC2/RhoBTB2 functions as a tumor suppressor protein via Musashi-2 ubiquitination in breast cancer. Oncogene, 2017, 36(20): 2802-2812.
18.	Ramos S, Khademi F, Somesh BP, et al.Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse. Gene, 2002, 298(2): 147-157.
19.	Siripurapu V, Meth J, Kobayashi N, et al. DBC2 significantly influences cell-cycle, apoptosis, cytoskeleton and membrane-trafficking pathways. J Mol Biol, 2005, 346(1): 83-89.
20.	Thompson L, Fecske E, Salim M, et al. Use of the ketogenic diet in the neonatal intensive care unit-Safety and tolerability. Epilepsia, 2017, 58(2): e36-e39.
21.	刘先禹, 郑帼, 王晓雨, 等. 生酮饮食治疗儿童难治性癫痫的研究进展. 国际儿科学杂志, 2019, 46(5): 348-351.
22.	Kim JA, Yoon JR, Lee EJ, et al. Efficacy of the classic ketogenic and the modified Atkins diets in refractory childhood epilepsy. Epilepsia, 2016, 57(1): 51-58.

1. 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.
2. SpecchioN, Curatolo P. Developmental and epileptic encephalopathies: what we do and do not know. Brain, 2021, 144(1): 32-43.
3. Straub J, Konrad EDH, Grüner J, et al. Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila. Am J Hum Genet, 2018, 102: 44–57.
4. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17(5): 405-424.
5. 向秋莲, 郭虎, 高修成, 等. RHOBTB2基因突变致癫痫性脑病1例病例报告并文献复习. 中国循证儿科杂志, 2022, 17(1): 75-78.
6. 李欣, 王磊, 马爱华. RHOBTB2基因突变致癫痫性脑病1例并文献复习. 中华实用儿科临床杂志, 2022, 37(3): 224-226.
7. 刘明, 丁昌红, 陈春红, 等. 以癫痫脑病为主要表现的RHOBTB2基因相关疾病1例. 中华儿科杂志, 2022, 60(3): 242-243.
8. Spagnoli C, Soliani L, Caraffi SG, et al. Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy. Parkinsonism Relat Disord, 2020, 76: 54-55.
9. Belal H, Nakashima M, Matsumoto H, et al. De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy. Hum Mutat. 2018, 39(8): 1070-1075.
10. Defo A, Verloes A, Elenga N. Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: a case report from French Guiana. Mol Genet Genomic Med, 2022, 10(6): e1929.
11. Necpál J, Zech M, Valachová A, et al. Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier. Parkinsonism Relat Disord, 2020, 77: 87-88.
12. Knijnenburg ACS, Nicolai J, Bok LA, et al. Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation. Neurol Genet, 2020, 6(3): e418.
13. Zagaglia S, Steel D, Krithika S, et al. RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood. Neurology, 2021, 96(11): e1539-e1550.
14. Lopes F, Barbosa M, Ameur A, et al. Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet, 2016, 53(3): 190-199.
15. Niu X, Sun Y, Yang Y, et al. RHOBTB2 gene associated epilepsy and paroxysmal movement disorder: two cases report and literature review. Acta Epileptologica, 2021, 3(1).
16. Hamaguchi M, Meth JL, von Klitzing C, et al. DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A, 2002, 99(21): 13647-13652.
17. Choi YM, Kim KB, Lee JH, et al. DBC2/RhoBTB2 functions as a tumor suppressor protein via Musashi-2 ubiquitination in breast cancer. Oncogene, 2017, 36(20): 2802-2812.
18. Ramos S, Khademi F, Somesh BP, et al.Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse. Gene, 2002, 298(2): 147-157.
19. Siripurapu V, Meth J, Kobayashi N, et al. DBC2 significantly influences cell-cycle, apoptosis, cytoskeleton and membrane-trafficking pathways. J Mol Biol, 2005, 346(1): 83-89.
20. Thompson L, Fecske E, Salim M, et al. Use of the ketogenic diet in the neonatal intensive care unit-Safety and tolerability. Epilepsia, 2017, 58(2): e36-e39.
21. 刘先禹, 郑帼, 王晓雨, 等. 生酮饮食治疗儿童难治性癫痫的研究进展. 国际儿科学杂志, 2019, 46(5): 348-351.
22. Kim JA, Yoon JR, Lee EJ, et al. Efficacy of the classic ketogenic and the modified Atkins diets in refractory childhood epilepsy. Epilepsia, 2016, 57(1): 51-58.

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