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.
|