Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1

Autores:: Paredes , Angela Camila
González , Diana Vanesa
Espinosa , Eugenia

Tipo de recurso:: Article of journal

Fecha de publicación:: 2020

Institución:: Fundación Universitaria de Ciencias de la Salud - FUCS

Repositorio:: Repositorio Digital Institucional ReDi

Idioma:: spa

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dc.title.spa.fl_str_mv	Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1
dc.title.translated.eng.fl_str_mv	Infantile epileptic encephalopathy in a colombian child with a pathogenic de novo STXBP1 gene variant
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 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
dc.creator.fl_str_mv	Paredes , Angela Camila González , Diana Vanesa Espinosa , Eugenia
dc.contributor.author.spa.fl_str_mv	Paredes , Angela Camila González , Diana Vanesa Espinosa , Eugenia
dc.subject.spa.fl_str_mv	Encefalopatía epiléptica STXBP1 epilepsia infantil síndrome de Ohtahara trastorno del movimiento trastorno del comportamiento trastorno del espectro autista
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
dc.subject.eng.fl_str_mv	STXBP1 encephalopathy with epilepsy epilepsy in childhood Ohtahara Syndrome movement disorders behavior disorders autism spectrum disorder
publishDate	2020
dc.date.accessioned.none.fl_str_mv	2020-11-13 12:22:47 2022-06-29T19:38:08Z
dc.date.issued.none.fl_str_mv	2020-11-13
dc.date.available.none.fl_str_mv	2020-11-13 12:22:47 2022-06-29T19:38:08Z
dc.type.spa.fl_str_mv	Artículo de revista
dc.type.eng.fl_str_mv	Journal article
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dc.identifier.doi.none.fl_str_mv	10.31260/RepertMedCir.01217273.966
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dc.relation.references.spa.fl_str_mv	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 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 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. Pearl PL. Epilepsy Syndromes in Childhood. Contin Minneap Minn. 2018;24(1, Child Neurology):186-209. doi:10.1212/ CON.0000000000000568 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 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 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 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 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 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 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 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 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 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 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 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
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spelling	Paredes , Angela Camilab19f9af22d828d8189d38eea95c5387a300González , Diana Vanesab31edb8401c5f11cc4a35e64c26192e5300Espinosa , Eugenia7923532fc685fbcd9315b0e430abed332020-11-13 12:22:472022-06-29T19:38:08Z2020-11-132020-11-13 12:22:472022-06-29T19:38:08ZSociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la SaludRevista Repertorio de Medicina y Cirugía - 2020info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/4.0/http://purl.org/coar/access_right/c_abf2https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/966Encefalopatía epiléptica STXBP1epilepsia infantilsíndrome de Ohtaharatrastorno del movimientotrastorno del comportamientotrastorno del espectro autistaSTXBP1 encephalopathy with epilepsyepilepsy in childhoodOhtahara Syndromemovement disordersbehavior disordersautism spectrum disorderEncefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1Infantile epileptic encephalopathy in a colombian child with a pathogenic de novo STXBP1 gene variantapplication/pdftext/htmlapplication/epub+ziptext/xmlaudio/mpegArtículo de revistaJournal articlehttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionTexthttp://purl.org/redcol/resource_type/ARTREFhttp://purl.org/coar/version/c_970fb48d4fbd8a8510.31260/RepertMedCir.01217273.9660121-7372https://repositorio.fucsalud.edu.co/handle/001/29422462-991Xhttps://doi.org/10.31260/RepertMedCir.01217273.966spaShbarou 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.2016.06.002Milh M, Riccardi F, Denis J. Genetics of neonatal onset epilepsies: An overview. Rev Neurol (Paris). May 2019. doi:10.1016/j. neurol.2019.01.396Khaikin 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.Pearl PL. Epilepsy Syndromes in Childhood. Contin Minneap Minn. 2018;24(1, Child Neurology):186-209. doi:10.1212/ CON.0000000000000568Hussain 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.2011.05.057Ramakrishnan 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.2012.03.009Saitsu 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.150Uddin 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/ g3.118.200080Swanson 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.1997.5202Shen 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/ncomms9852Toonen 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.0608507103Suri 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/mgg3.304Verhage M. Synaptic Assembly of the Brain in the Absence of Neurotransmitter Secretion. Science. 2000;287(5454):864-869. doi:10.1126/science.287.5454.864Yamamoto 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.2015.09.004Zhou 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.12456Patzke 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/JCI78612Yamashita 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.13338The 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/nature13772Murillo E. Características de las personas con el síndrome STXBP1 en España: implicaciones para el diagnóstico. An Pediatría. May 2019. doi:10.1016/j.anpedi.2019.04.008Stamberger H, Nikanorova M, Willemsen MH, et al. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954-962. doi:10.1212/ WNL.0000000000002457Ortega-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.2014.10.017Milh 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.xSaitsu 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.xKeogh 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-zLanoue 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.0000000000007786Yamamoto 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.2019.05.007Campbell 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.2012.65Yuen 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.3792Rezazadeh 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.2018.12.018Liu J, Tong L, Song S, et al. Novel and de novo mutations in pediatric refractory epilepsy. Mol Brain. 2018;11(1). doi:10.1186/ s13041-018-0392-5Kovačević 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/awy046Uddin 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.0000000000000199https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1190https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1548https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1547https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1401https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1549Núm. 3 , Año 2020 : Septiembre-Diciembre197319229Revista Repertorio de Medicina y CirugíaPublicationOREORE.xmltext/xml2839https://repositorio.fucsalud.edu.co/bitstreams/7577cb16-9734-480a-b9c5-d3cb78ab23fa/download5a7c8546d09de8a1fc6c8cdb9c894787MD51001/2942oai:repositorio.fucsalud.edu.co:001/29422024-02-02 13:11:04.521https://creativecommons.org/licenses/by-nc-sa/4.0/Revista Repertorio de Medicina y Cirugía - 2020metadata.onlyhttps://repositorio.fucsalud.edu.coRepositorio Digital de la Fundación Universitaria de Ciencias de la Saludredi@fucsalud.edu.co

Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1

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