Titulo:
Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1
.
Guardado en:
0121-7372
2462-991X
29
2020-11-13
192
197
Revista Repertorio de Medicina y Cirugía - 2020
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Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1 Paredes , Angela Camila González , Diana Vanesa Espinosa , Eugenia Encefalopatía epiléptica STXBP1 epilepsia infantil síndrome de Ohtahara trastorno del movimiento trastorno del comportamiento trastorno del espectro autista STXBP1 encephalopathy with epilepsy epilepsy in childhood Ohtahara Syndrome movement disorders behavior disorders autism spectrum disorder 29 3 Núm. 3 , Año 2020 : Septiembre-Diciembre Artículo de revista Journal article 2020-11-13 12:22:47 2020-11-13 12:22:47 2020-11-13 application/pdf text/html application/epub+zip text/xml audio/mpeg Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud Revista Repertorio de Medicina y Cirugía 0121-7372 2462-991X https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/966 10.31260/RepertMedCir.01217273.966 https://doi.org/10.31260/RepertMedCir.01217273.966 https://creativecommons.org/licenses/by-nc-sa/4.0/ Revista Repertorio de Medicina y Cirugía - 2020 192 197 Shbarou R, Mikati MA. 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Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018;17(8):e12456. doi:10.1111/gbb.12456 Patzke C, Han Y, Covy J, et al. Analysis of conditional heterozygous STXBP1 mutations in human neurons. J Clin Invest. 2015;125(9):3560-3571. doi:10.1172/JCI78612 Yamashita S, Chiyonobu T, Yoshida M, et al. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1 -related epileptic encephalopathy. Epilepsia. 2016;57(4):e81-e86. doi:10.1111/epi.13338 The DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515(7526):209- 215. doi:10.1038/nature13772 Murillo E. Características de las personas con el síndrome STXBP1 en España: implicaciones para el diagnóstico. An Pediatría. May 2019. doi:10.1016/j.anpedi.2019.04.008 Stamberger H, Nikanorova M, Willemsen MH, et al. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954-962. doi:10.1212/ WNL.0000000000002457 Ortega-Moreno L, Giráldez BG, Verdú A, et al. Nueva mutación en el gen STXBP1 en un paciente con síndrome de Ohtahara no lesional. Neurología. 2016;31(8):523-527. doi:10.1016/j. nrl.2014.10.017 Milh M, Villeneuve N, Chouchane M, et al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations: STXBP1 and Early Onset Epilepsy. Epilepsia. 2011;52(10):1828-1834. doi:10.1111/j.1528- 1167.2011.03181.x Saitsu H, Kato M, Okada I, et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern: Haploinsufficiency of STXBP1 in EIEE. Epilepsia. 2010;51(12):2397-2405. doi:10.1111/j.1528-1167.2010.02728.x Keogh MJ, Daud D, Pyle A, et al. A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late- onset juvenile-onset parkinsonism. neurogenetics. 2015;16(1):65- 67. doi:10.1007/s10048-014-0431-z Lanoue V, Chai YJ, Brouillet JZ, et al. STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies? Neurology. June 2019:10.1212/ WNL.0000000000007786. doi:10.1212/WNL.0000000000007786 Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, et al. Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders. Brain Dev. June 2019. doi:10.1016/j.braindev.2019.05.007 Campbell IM, Yatsenko SA, Hixson P, et al. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012;14(10):868-876. doi:10.1038/gim.2012.65 Yuen RKC, Thiruvahindrapuram B, Merico D, et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med. 2015;21(2):185-191. doi:10.1038/nm.3792 Rezazadeh A, Uddin M, Snead OC, et al. STXBP1 encephalopathy is associated with awake bruxism. Epilepsy Behav. 2019;92:121- 124. doi:10.1016/j.yebeh.2018.12.018 Liu J, Tong L, Song S, et al. Novel and de novo mutations in pediatric refractory epilepsy. Mol Brain. 2018;11(1). doi:10.1186/ s13041-018-0392-5 Kovačević J, Maroteaux G, Schut D, et al. Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. Brain. 2018;141(5):1350-1374. doi:10.1093/brain/awy046 Uddin M, Woodbury-Smith M, Chan A, et al. Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. Neurol Genet. 2017;3(6):e199. doi:10.1212/ NXG.0000000000000199 https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1190 https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1548 https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1547 https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1401 https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1549 info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 http://purl.org/redcol/resource_type/ARTREF info:eu-repo/semantics/publishedVersion http://purl.org/coar/version/c_970fb48d4fbd8a85 info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 Text Publication |
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Revista Repertorio de Medicina y Cirugía |
| title |
Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1 |
| spellingShingle |
Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1 Paredes , Angela Camila González , Diana Vanesa Espinosa , Eugenia Encefalopatía epiléptica STXBP1 epilepsia infantil síndrome de Ohtahara trastorno del movimiento trastorno del comportamiento trastorno del espectro autista STXBP1 encephalopathy with epilepsy epilepsy in childhood Ohtahara Syndrome movement disorders behavior disorders autism spectrum disorder |
| title_short |
Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1 |
| title_full |
Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1 |
| title_fullStr |
Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1 |
| title_full_unstemmed |
Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1 |
| title_sort |
encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen stxbp1 |
| author |
Paredes , Angela Camila González , Diana Vanesa Espinosa , Eugenia |
| author_facet |
Paredes , Angela Camila González , Diana Vanesa Espinosa , Eugenia |
| topic |
Encefalopatía epiléptica STXBP1 epilepsia infantil síndrome de Ohtahara trastorno del movimiento trastorno del comportamiento trastorno del espectro autista STXBP1 encephalopathy with epilepsy epilepsy in childhood Ohtahara Syndrome movement disorders behavior disorders autism spectrum disorder |
| topic_facet |
Encefalopatía epiléptica STXBP1 epilepsia infantil síndrome de Ohtahara trastorno del movimiento trastorno del comportamiento trastorno del espectro autista STXBP1 encephalopathy with epilepsy epilepsy in childhood Ohtahara Syndrome movement disorders behavior disorders autism spectrum disorder |
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29 |
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3 |
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Núm. 3 , Año 2020 : Septiembre-Diciembre |
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Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud |
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Revista Repertorio de Medicina y Cirugía |
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Article |
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