Assessing the landscape of STXBP1-related disorders in 534 individuals

• Autor(a) principal: Xian, Julie
• Data de Publicação: 2021
• Outros Autores: Parthasarathy, Shridhar, Ruggiero, Sarah M., Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Jing, Gan, Ganesan, Shiva, Kaufman, Michael C., Ellis, Colin A., Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O'Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Goes, Fernanda Veiga de, El Achkar, Christelle M., Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, Van Berkel, Annemiek, Van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Rigby, Charlene Son, Demarest, Scott, Pierce, Samuel, Yuehua, Zhang, Møller, Rikke S., Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
• Texto Completo: https://www.arca.fiocruz.br/handle/icict/54728
• topic: Electroencephalography; Epilepsy / genetics; Humans; Infant; Munc18 Proteins / genetics; Retrospective Studies; Studies Seizures / genetics; Spasms, Infantile / genetics; Spasms, Infantile / drug therapy; STXBP1; Human Phenotype Ontology; Developmental and epileptic encephalopathy; Epilepsy; Genetics

Julie Xian (Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA / Children's Hospital of Philadelphia. Department of Biomedical and Health Informatics. Philadelphia, PA, USA / University of Pennsylvania. Neuroscience Program. Philadelphia, PA, USA.); Shridhar Parthasarathy (Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA / Children's Hospital of Philadelphia. Department of Biomedical and Health Informatics. Philadelphia, PA, USA / The College of New Jersey. Department of Biology. Ewing Township, NJ, USA.); Sarah M. Ruggiero (Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA.); Ganna Balagura (University of Genoa. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health. Genoa, Italy / L'istituto Giannina Gaslini è Istituto di Ricovero e Cura Pediatrico a Carattere Scientifico. Pediatric Neurology and Muscular Diseases Unit. Genoa, Italy.); Eryn Fitch (Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA.); Katherine Helbig (Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA / Children's Hospital of Philadelphia. Department of Biomedical and Health Informatics. Philadelphia, PA, USA.) / Jing Gan (Sichuan University. West China Second University Hospital. Department of Pediatrics. Chengdu, China / Ministry of Education. Sichuan University. Key Laboratory of Birth Defects and Related Diseases of Women and Children. Chengdu, China.); Shiva Ganesan (Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA / Children's Hospital of Philadelphia. Department of Biomedical and Health Informatics. Philadelphia, PA, USA.); Michael C. Kaufman (Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA / Children's Hospital of Philadelphia. Department of Biomedical and Health Informatics. Philadelphia, PA, USA.); Colin A. Ellis(Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA / Children's Hospital of Philadelphia. Department of Biomedical and Health Informatics. Philadelphia, PA, USA / Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA.); David Lewis-Smith (Newcastle University. Translational and Clinical Research Institute. Newcastle-upon-Tyne, UK / Royal Victoria Infirmary. Newcastle-upon-Tyne, UK); Peter Galer (Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA / Children's Hospital of Philadelphia. Department of Biomedical and Health Informatics. Philadelphia, PA, USA / University of Pennsylvania. Center for Neuroengineering and Therapeutics. Philadelphia, PA, USA.); Kristin Cunningham (Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA.); Margaret O'Brien (Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA , USA / Temple University. Lewis Katz School of Medicine. Philadelphia, PA, USA.); Mahgenn Cosico (Children's Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA.); Kate Baker (University of Cambridge. MRC Cognition and Brain Sciences Unit. Cambridge, UK.); Alejandra Darling (University of Barcelona. Hospital Sant Joan de Déu. Pediatric Neurology Department. Barcelona, Spain.); Fernanda Veiga de Goes (Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Pediatria. Laboratório de Neurologia Pediátrica. Rio de Janeiro, RJ, Brasil.); Christelle M. El Achkar (Boston Children's Hospital. Department of Neurology. Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program. Boston, MA, USA.); Jan Henje Doering (University Hospital Heidelberg. Centre for Pediatric and Adolescent Medicine. Division of Pediatric Epileptology. Heidelberg, Germany); Francesca Furia (Danish Epilepsy Center Filadelfia. Department of Clinical Neurophysiology. Dianalund, Denmark.); Ángeles García-Cazorla (University of Barcelona. Hospital Sant Joan de Déu. Pediatric Neurology Department. Barcelona, Spain.); Elena Gardella (Danish Epilepsy Center Filadelfia. Department of Clinical Neurophysiology. Dianalund, Denmark.); Lisa Geertjens (University of Amsterdam. Amsterdam UMC. Department of Child and Adolescent Psychiatry. Amsterdam, The Netherlands.); Courtney Klein (Children's Hospital Colorado. Departments of Pediatrics and Neurology. Aurora, CO, USA.); Anna Kolesnik-Taylor (University of Cambridge. MRC Cognition and Brain Sciences Unit. Cambridge, UK.); Hanna Lammertse (Amsterdam University Medical Center. Center for Neurogenomics and Cognitive Research. Department of Human Genetics. de Boelelaan, Amsterdam, The Netherlands.); Jeehun Lee (Sungkyunkwan University. School of Medicine. Samsung Medical Center. Department of Pediatrics. Seoul, Republic of Korea.); Alexandra Mackie (Children's Hospital Colorado. Departments of Pediatrics and Neurology. Aurora, CO, USA.); Mala Misra-Isrie (Amsterdam University Medical Center. Center for Neurogenomics and Cognitive Research. Department of Human Genetics. de Boelelaan, Amsterdam, The Netherlands.); Heather Olson (Boston Children's Hospital. Department of Neurology. Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program. Boston, MA, USA.); Emma Sexton (Boston Children's Hospital. Department of Neurology. Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program. Boston, MA, USA.); Beth Sheidley (Boston Children's Hospital. Department of Neurology. Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program. Boston, MA, USA.); Lacey Smith (Boston Children's Hospital. Department of Neurology. Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program. Boston, MA, USA.); Luiza Sotero (Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Pediatria. Laboratório de Neurologia Pediátrica. Rio de Janeiro, RJ, Brasil.); Hannah Stamberger (University Hospital Antwerp. Division of Neurology. Antwerp, Belgium / VIB Center for Molecular Neurology. Applied & Translational Neurogenomics Group. Antwerp, Belgium.); Steffen Syrbe (University Hospital Heidelberg. Centre for Pediatric and Adolescent Medicine. Division of Pediatric Epileptology. Heidelberg, Germany.); Kim Marie Thalwitzer (University Hospital Heidelberg. Centre for Pediatric and Adolescent Medicine. Division of Pediatric Epileptology. Heidelberg, Germany.); Annemiek van Berkel (VU University Amsterdam. Center for Neurogenomics and Cognitive Research. Department of Functional Genomics. De Boelelaan, Amsterdam, The Netherlands.); Mieke van Haelst (Amsterdam University Medical Center. Center for Neurogenomics and Cognitive Research. Department of Human Genetics. De Boelelaan, Amsterdam, The Netherlands.); Christopher Yuskaitis (Boston Children's Hospital. Department of Neurology. Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program. Boston, MA, USA.); Sarah Weckhuysen (University Hospital Antwerp. Division of Neurology. Antwerp, Belgium / VIB Center for Molecular Neurology. Applied & Translational Neurogenomics Group. Antwerp, Belgium / University of AntwerpFaculty of Medicine and Health Science. Translational Neurosciences. Antwerp, Belgium.); Ben Prosser (University of Pennsylvania. Perelman School of Medicine. Department of Physiology. Philadelphia, PA, USA.); Charlene Son Rigby (STXBP1 Foundation. Apex, NC, USA.); Scott Demarest (Children's Hospital Colorado. Departments of Pediatrics and Neurology. Aurora, CO, USA.); Samuel Pierce (Children’s Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA.); Yuehua Zhang (Beijing University First Hospital. Department of Pediatrics. Beijing, China.); Rikke S. Møller (Danish Epilepsy Center Filadelfia. Department of Clinical Neurophysiology. Dianalund, Denmark.); Hilgo Bruining (University of Amsterdam. Amsterdam UMC. Department of Child and Adolescent Psychiatry. Amsterdam, The Netherlands.); Annapurna Poduri (Boston Children's Hospital. Department of Neurology. Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program. Boston, MA, USA.); Federico Zara (University of Genoa. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health. Genoa, Italy.); Matthijs Verhage (Amsterdam University Medical Center. Center for Neurogenomics and Cognitive Research. Department of Human Genetics. De Boelelaan, Amsterdam, The Netherlands / VU University Amsterdam. Center for Neurogenomics and Cognitive Research. Department of Functional Genomics. De Boelelaan, Amsterdam, The Netherlands.); Pasquale Striano (University of Genoa. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health. Genoa, Italy.); Ingo Helbig (Children’s Hospital of Philadelphia. Division of Neurology. Philadelphia, PA, USA / Children's Hospital of Philadelphia. The Epilepsy NeuroGenetics Initiative. Philadelphia, PA, USA / Children’s Hospital of Philadelphia. Department of Biomedical and Health Informatics. Philadelphia, PA, USA / University of Pennsylvania. Perelman School of Medicine. Department of Neurology. Philadelphia, PA, USA.).