Titulo:
Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1
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0121-7372
2462-991X
29
2020-11-13
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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 29 Revista Repertorio de Medicina y Cirugía Artículo de revista Núm. 3 , Año 2020 : Septiembre-Diciembre 3 Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud Espinosa , Eugenia González , Diana Vanesa Paredes , Angela Camila Journal article Verhage M. Synaptic Assembly of the Brain in the Absence of Neurotransmitter Secretion. Science. 2000;287(5454):864-869. doi:10.1126/science.287.5454.864 Toonen RFG, Wierda K, Sons MS, et al. Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size. Proc Natl Acad Sci. 2006;103(48):18332-18337. doi:10.1073/ pnas.0608507103 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 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 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 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 Suri M, Evers JMG, Laskowski RA, et al. Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. Mol Genet Genomic Med. 2017;5(5):495-507. doi:10.1002/mgg3.304 Yamamoto T, Shimojima K, Yano T, et al. Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. Brain Dev. 2016;38(3):280-284. doi:10.1016/j.braindev.2015.09.004 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 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 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 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 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 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 Zhou P, He N, Zhang J-W, et al. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018;17(8):e12456. doi:10.1111/gbb.12456 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 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 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 info:eu-repo/semantics/article Text http://purl.org/coar/access_right/c_abf2 info:eu-repo/semantics/openAccess http://purl.org/coar/version/c_970fb48d4fbd8a85 info:eu-repo/semantics/publishedVersion http://purl.org/redcol/resource_type/ARTREF http://purl.org/coar/resource_type/c_6501 https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1549 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 https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1401 https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1547 https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1548 https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1190 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 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 Swanson DA, Steel JM, Valle D. Identification and Characterization of the Human Ortholog of Rat STXBP1, a Protein Implicated in Vesicle Trafficking and Neurotransmitter Release. Genomics. 1998;48(3):373-376. doi:10.1006/geno.1997.5202 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 Shen C, Rathore SS, Yu H, et al. The trans-SNARE-regulating function of Munc18-1 is essential to synaptic exocytosis. Nat Commun. 2015;6(1). doi:10.1038/ncomms9852 Khaikin Y, Mercimek-Mahmutoglu S. STXBP1 Encephalopathy with Epilepsy. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993. http://www.ncbi.nlm.nih.gov/books/NBK396561/. Accessed June 20, 2019. Uddin M, Woodbury-Smith M, Chan AJS, et al. Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. G3amp58 GenesGenomesGenetics. 2018;8(4):1115-1118. doi:10.1534/ g3.118.200080 Ohtahara Syndrome application/pdf 2020-11-13 2020-11-13 12:22:47 2020-11-13 12:22:47 autism spectrum disorder behavior disorders movement disorders epilepsy in childhood application/epub+zip STXBP1 encephalopathy with epilepsy trastorno del espectro autista trastorno del comportamiento trastorno del movimiento síndrome de Ohtahara epilepsia infantil Encefalopatía epiléptica STXBP1 text/html text/xml Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40(6):782-788. doi:10.1038/ ng.150 Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0. Ramakrishnan NA, Drescher MJ, Drescher DG. The SNARE complex in neuronal and sensory cells. Mol Cell Neurosci. 2012;50(1):58-69. doi:10.1016/j.mcn.2012.03.009 Hussain S, Davanger S. The discovery of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor complexandthemolecularregulationofsynapticvesicletransmitter release: the 2010 Kavli Prize in neuroscience. Neuroscience. 2011;190:12-20. doi:10.1016/j.neuroscience.2011.05.057 Pearl PL. Epilepsy Syndromes in Childhood. Contin Minneap Minn. 2018;24(1, Child Neurology):186-209. doi:10.1212/ CON.0000000000000568 Milh M, Riccardi F, Denis J. Genetics of neonatal onset epilepsies: An overview. Rev Neurol (Paris). May 2019. doi:10.1016/j. neurol.2019.01.396 Shbarou R, Mikati MA. The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies. Semin Pediatr Neurol. 2016;23(2):134-142. doi:10.1016/j.spen.2016.06.002 197 192 Revista Repertorio de Medicina y Cirugía - 2020 audio/mpeg https://creativecommons.org/licenses/by-nc-sa/4.0 https://doi.org/10.31260/RepertMedCir.01217273.966 10.31260/RepertMedCir.01217273.966 https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/966 2462-991X 0121-7372 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 Espinosa , Eugenia González , Diana Vanesa Paredes , Angela Camila Ohtahara Syndrome autism spectrum disorder behavior disorders movement disorders epilepsy in childhood STXBP1 encephalopathy with epilepsy trastorno del espectro autista trastorno del comportamiento trastorno del movimiento síndrome de Ohtahara epilepsia infantil Encefalopatía epiléptica STXBP1 |
| 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 |
Espinosa , Eugenia González , Diana Vanesa Paredes , Angela Camila |
| author_facet |
Espinosa , Eugenia González , Diana Vanesa Paredes , Angela Camila |
| topic |
Ohtahara Syndrome autism spectrum disorder behavior disorders movement disorders epilepsy in childhood STXBP1 encephalopathy with epilepsy trastorno del espectro autista trastorno del comportamiento trastorno del movimiento síndrome de Ohtahara epilepsia infantil Encefalopatía epiléptica STXBP1 |
| topic_facet |
Ohtahara Syndrome autism spectrum disorder behavior disorders movement disorders epilepsy in childhood STXBP1 encephalopathy with epilepsy trastorno del espectro autista trastorno del comportamiento trastorno del movimiento síndrome de Ohtahara epilepsia infantil Encefalopatía epiléptica STXBP1 |
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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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https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/966 |
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Article |
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http://purl.org/coar/access_right/c_abf2 info:eu-repo/semantics/openAccess Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0. Revista Repertorio de Medicina y Cirugía - 2020 https://creativecommons.org/licenses/by-nc-sa/4.0 |
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