STXBP1-Related Developmental and Epileptic Encephalopathy

Researchers from the University of Antwerp, Belgium, and numerous international collaborators report a comprehensive overview of the phenotypic and genetic spectrum of Syntaxin-binding protein 1 (STXBP1) encephalopathy.

Detalles Bibliográficos
Autores principales: Wild, Brittani, Nelson, Stephen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2019
Materias:
Genetic Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942547/
https://www.ncbi.nlm.nih.gov/pubmed/31929717
http://dx.doi.org/10.15844/pedneurbriefs-33-6
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author Wild, Brittani
Nelson, Stephen
author_facet Wild, Brittani
Nelson, Stephen
author_sort Wild, Brittani
collection PubMed
description Researchers from the University of Antwerp, Belgium, and numerous international collaborators report a comprehensive overview of the phenotypic and genetic spectrum of Syntaxin-binding protein 1 (STXBP1) encephalopathy.
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spelling pubmed-69425472020-01-10 STXBP1-Related Developmental and Epileptic Encephalopathy Wild, Brittani Nelson, Stephen Pediatr Neurol Briefs Genetic Disorders Researchers from the University of Antwerp, Belgium, and numerous international collaborators report a comprehensive overview of the phenotypic and genetic spectrum of Syntaxin-binding protein 1 (STXBP1) encephalopathy. Pediatric Neurology Briefs Publishers 2019-12-31 /pmc/articles/PMC6942547/ /pubmed/31929717 http://dx.doi.org/10.15844/pedneurbriefs-33-6 Text en Copyright: © 2019 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Genetic Disorders
Wild, Brittani
Nelson, Stephen
STXBP1-Related Developmental and Epileptic Encephalopathy
title STXBP1-Related Developmental and Epileptic Encephalopathy
title_full STXBP1-Related Developmental and Epileptic Encephalopathy
title_fullStr STXBP1-Related Developmental and Epileptic Encephalopathy
title_full_unstemmed STXBP1-Related Developmental and Epileptic Encephalopathy
title_short STXBP1-Related Developmental and Epileptic Encephalopathy
title_sort stxbp1-related developmental and epileptic encephalopathy
topic Genetic Disorders
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942547/
https://www.ncbi.nlm.nih.gov/pubmed/31929717
http://dx.doi.org/10.15844/pedneurbriefs-33-6
work_keys_str_mv AT wildbrittani stxbp1relateddevelopmentalandepilepticencephalopathy
AT nelsonstephen stxbp1relateddevelopmentalandepilepticencephalopathy

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