[1] Mc Tague A, Howell KB, Cross JH, et al.The genetic landscape of the epileptic encephalopathies of infancy and childhood[J].Lancet Neurol, 2016, 15(3): 304-316.
[2] Danti FR, Galosi S, Romani M, et al.GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome[J].Neurol Genet, 2017, 3(2): e143-150.
[3] Nakamura K, Kodera H, Akita T, et al.De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy[J].Am J Hum Genet, 2013, 93(3): 496-505.
[4] Yang XL,Niu XY, Yang Y, et al.Phenotypes of GNAO1 variants in a Chinese cohort[J].Front Neurol, 2021,12:662162.doi:10.3389/fneur.2021.662162.
[5] Kim SY, Shim Y,Ko YJ, et al.Spectrum of movement disorders in GNAO1 encephalopathy: In-depth phenotyping and case-by-case analysis[J].Orphanet J Rare Dis, 2020, 15(1): 343-348.
[6] Kelly M, Park M,Mihalek I, et al.Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region[J].Epilepsia, 2019, 60(3): 406-418.
[7] 熊娟, 彭镜, 段浩林, 等.反复抽搐、肺部感染并发育落后[J].中国当代儿科杂志, 2018, 20(2): 154-157.
[8] 蒋 姣, 李杨, 王丹, 等.癫痫与运动障碍共存GNAO1脑病1例报告并文献复习[J].临床儿科杂志, 2020, 38(9): 691-694.
[9] Feng H, Khalil S, Neubig RR, et al.A mechanistic review on GNAO1-associated movement disorder[J].Neurobiol Dis, 2018, 116(1): 131-141.
[10] Pearson TS, Helbig I.Epileptic encephalopathy, movement disorder, and the yin and yang of GNAO1 function[J].Neurology, 2017, 89(8): 754-755.
[11] Arisaka A, Nakashima M, Kumada S, et al.Association of early-onset epileptic encephalopathy with involuntary movements-case series and literature review[J].Epilepsy Behav Rep, 2021, 15:100417.
[12] Jiang M, Gold MS, Boulay G, et al.Multiple neurological abnormalities in mice deficient in the G protein Go[J].Proc Natl Acad Sci USA, 1998, 95(6): 3269-3274.
[13] Schirinzi T, Garone G, Travaglini L, et al.Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review[J].Parkinsonism Relat Disord, 2019, 61: 19-25.
[14] Yu Y, Huang Z, Mao Z, et al.Go is required for the release of IL-8 and TNF-α, but not degranulation in human mast cells[J].Eur J Pharmacol, 2016, 780(Suppl C): 115-121.
[15] Menke LA, Engelen M, Alders M, et al.Recurrent GNAO1 mutations associated with developmental delay and a movement disorder[J].J Child Neurol, 2016, 31(14): 1598-1601.
[16] Feng H, Sjögren B, Karaj B, et al.Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations[J].Neurology, 2017, 89(8): 762-770.
[17] Ananth AL, Robichaux-Viehoever A, Kim YM, et al.Clinical course of six children with GNAO1mutations causing a severe and distinctive movement disorder[J].Pediatr Neurol, 2016, 59: 81-84.
[18] Schorling DC, Dietel T, Evers C, et al.Expanding phenotype of de novo mutations in GNAO1: Four new cases and review of literature[J].Neuropediatrics, 2017, 48(5): 371-377.
[19] Sakamoto S, Monden Y, Fukai R, et al.A case of severe movement disorder with GNAO1 mutation responsive to topiramate[J].Brain Dev, 2017, 39(5): 439-443. |
