Page 154 - 南京医科大学学报自然科学版
P. 154
第44卷第2期
·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)