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               ·292 ·                          南   京 医 科       大 学      学 报                        2024年2月


             [9] BBELAL H,NAKASHIMA M,MATSUMOTO H,et al. De          new candidates and atypical presentations[J]. Brain Sci,
                   novo variants in RHOBTB2,an atypical Rho GTPase   2021,11(7):936
                   gene,cause epileptic encephalopathy[J]. Hum Mut,  [16] FONSECA J,MELO C,FERREIRA C,et al. RHOBTB2 p.
                   2018,39(8):1070-1075                              Arg511Trp mutation in early infantile epileptic encepha⁃
             [10] NECPÁL J,ZECH M,VALACHOVÁ A,et al. Severe par⁃     lopathy⁃64:review and case report[J]. J Pediatr Genet,
                   oxysmal dyskinesias  without epilepsy in a RHOBTB2  2021,12(2):155-158
                   mutation carrier[J]. Parkinsonism Related Disord,2020,  [17] 李  欣,王  磊,马爱华. RHOBTB2基因突变致癫痫性
                   77:87-88                                          脑病1例并文献复习[J].中华实用儿科临床杂志,
             [11] SPAGNOLI C,SOLIANI L,CARAFFI S G,et al. Paroxys⁃   2022,37(3):224-226
                   mal movement disorder with response to carbamazepine  [18] 刘  明,丁昌红,陈春红,等.以癫痫脑病为主要表现的
                   in a patient with RHOBTB2 developmental and epileptic  RHOBTB2基因相关疾病1例[J].中华儿科杂志,2022,
                   encephalopathy[J]. Parkinsonism Relat Disord,2020,  60(3):242-243
                   76:54-55                                     [19] MAO H,ZHANG L,YANG Y,et al. RhOBTB2(DBC2)
             [12] KNIJNENBURG A C S,NICOLAI J,BOK L A,et al.         functions as tumor suppressor via inhibiting proliferation,
                   Acute encephalopathy after head trauma in a patient with  preventing colony formation and inducing apoptosis in
                   a RHOBTB2 mutation[J]. Neurol Genet,2020,6(3):    breast cancer cells[J]. Gene. 2011,486(1⁃2):74-80
                   e418                                         [20] UEYAMA T. Rho⁃family small GTPases:from highly po⁃
             [13] ZAGAGLIA S,STEEL D,KRITHIKA S,et al. RHOBTB2       larized sensory neurons to cancer cells[J]. Cells,2019,8
                   mutations expand the phenotypic spectrum of alternating  (2):92
                   hemiplegia of childhood[J]. Neurology,2021,96(11):  [21] PACE C N,FU H,LEE F K,et al. Contribution of hydro⁃
                   1539-1550                                         gen bonds to protein stability[J]. Protein Sci,2014,23
             [14] XUEYANG N,YAN S,YING Y,et al. RHOBTB2 gene as⁃    (5):652-661
                   sociated epilepsy and paroxysmal movement disorder:two  [22] ROCHTU A,OLSON H E,SMITH L,et al. Genetic diag⁃
                   cases report and literature review[J]. Acta Epileptologi⁃  noses in epilepsy:the impact of dynamic exome analysis
                   ca,2021,3:20                                      in a pediatric cohort[J].Epilepsia,2020,61(2):249-258
             [15] VALENTINO F,BRUNO LP,DODDATO G,et al. Exome                             [收稿日期] 2023-09-30
                   sequencing in 200 intellectual disability/autistic patients:                (本文编辑:唐      震)
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