Telehealth for Children With Epilepsy Is Effective and Reduces Anxiety Independent of Healthcare Setting

Autor: Kerstin Alexandra Klotz, Felippe Borlot, Morris H. Scantlebury, Eric T. Payne, Juan Pablo Appendino, Jan Schönberger, Julia Jacobs

Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)

Objectives: The use of telemedicine has grown exponentially as an alternative to providing care to patients with epilepsy during the pandemic. We investigated the impact of the current pandemic among children with epilepsy from two distinct pediatric

Externí odkaz: https://doaj.org/article/2af6d1ceb3e34f32ac595480950747dd

The Dilemma of Hemispherectomy for Rasmussen's Encephalitis in a Neurologically Intact Child

Autor: O. Carter Snead, Felippe Borlot, George M. Ibrahim, Heather Olivieri, Ivanna Yau

Publikováno v: Journal of Pediatric Epilepsy. 9:059-066

Rasmussen's encephalitis is a rare drug-resistant focal epilepsy characterized by progressive hemiparesis, hemianopia, and cognitive decline. Hemispherectomy is currently the only known treatment that can be curative, though expected to cause postope

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::efeca465c79423f90f60b66c79a01d69
https://doi.org/10.1055/s-0040-1710509

Encefalite anti-receptor N-metil-D-aspartato na infância

Autor: Felippe Borlot, Mara Lucia F. Santos, Marcia Bandeira, Paulo B. Liberalesso, Fernando Kok, Alfredo Löhr Jr., Umbertina C. Reed

Publikováno v: Jornal de Pediatria, Vol 88, Iss 3, Pp 275-278 (2012)

OBJETIVO: Discutir o diagnóstico diferencial das encefalites além daquelas de etiologia infecciosa, e alertar os pediatras para a possibilidade do diagnóstico de encefalite anti-receptor N-metil-D-aspartato (rNMDA) na população pediátrica, dest

Externí odkaz: https://doaj.org/article/61495fcb29f846daa49a28ea43927df2

Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability

Autor: Shari L Combe, Kenneth A. Myers, Danielle M. Andrade, Felippe Borlot, Francis Filloux, Bruno Ivo de Almeida

Publikováno v: Epilepsia. 60:1661-1669

Objective To determine the diagnostic yield of a commercial epilepsy gene panel in adults with chronic epilepsy and accompanying intellectual disability, given that genetic evaluation is often overlooked in this group of patients. Methods This is a c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59afb720b9fd445406c6e561c42508f0
https://doi.org/10.1111/epi.16273

PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Autor: Dario Pruna, Theresa Grebe, Felippe Borlot, Michael J. Esser, Juan Pablo Appendino, Katherine L. Helbig, Elisa Ballardini, Casey Brew, Anne-Sophie Denommé-Pichon, Anne Ronan, Laurie A. Demmer, Usha Kini, Marta Somorai, Julie Vogt, Sébastien Moutton, Raffaella Faggioli, Julien Van-Gils, Davide Ognibene, Sara Olivotto, Sabine Grønborg, David Coman, David P. Bick, Guido Rubboli, Orrin Devinsky, Atiya S. Khan, Robyn Whitney, Christine Coubes, Caroline Nava, Karen Keough, SakkuBai R. Naidu, Lucio Giordano, Davide Colavito, Dominic Spadafore, Arnaud Isapof, Walla Al-Hertani, Antonio Vitobello, Andrea V. Andrade, Gaetano Cantalupo, Sandra Whalen, Boudewijn Gunning, Shanawaz Hussain, David Hunt, Nathan Noble, Bertrand Isidor, Beatriz Gamboni, Katrine M Johannesen, Julien Buratti, Stephanie Moortgat, Ida Cursio, Agnese Suppiej, Delphine Héron, Lía Mayorga, William Benko, Rahul Raman Singh, Cyril Mignot, Sotirios Keros, Aurore Garde, Nicola Foulds, Claudia A. L. Ruivenkamp, Elena Gardella, Barbara Scelsa, Fernanda Góes, Laurence Faivre, Richard J. Leventer, Ashley Collier, Farha Tokarz, Thomas Courtin, Klaas J. Wierenga, Xilma R. Ortiz-Gonzalez, Frédéric Tran-Mau-Them, Alejandra Mampel, Lynn Greenhalgh, Ashlea Franques, Amélie Piton, Felicia Varsalone, Marjolaine Willems, Alessandro Orsini, Diana Rodriguez, Clothilde Ormieres, Helen Stewart, Boris Keren, Austin Larson, Cathrine E. Gjerulfsen, Julie S. Cohen, Margot R.F. Reijnders, Mel Anderson, Shailesh Asakar, Rikke S. Møller, Alice Bonuccelli, Alexandra Afenjar, Claudio Graziano, Elaine Wirrell, Simona Damioli, Sangeetha Yoganathan, Devorah Segal, Ingo Helbig, Mindy H. Li, Rob P.W. Rouhl, Sarah Hicks, Allan Bayat, Holly Dubbs, Stefania Bigoni, Kelly Ratke, John Brandsema, Eva H. Brilstra

Publikováno v: Neurology Genetics
Neurology Genetics, 2021, 7 (6), pp.e613. ⟨10.1212/nxg.0000000000000613⟩
PURA study group 2021, ' PURA-Related Developmental and Epileptic Encephalopathy : Phenotypic and Genotypic Spectrum ', Neurology: Genetics, vol. 7, no. 6, e613 . https://doi.org/10.1212/NXG.0000000000000613
Paediatrics Publications

Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2038fd7886be837d74d4bafda76745fe
https://hal.science/hal-03881856/document