Baseline characteristics and predictors for early implantation of vagus nerve stimulation therapy in people with drug‐resistant epilepsy: Observations from an international prospective outcomes registry (CORE‐VNS)

Autor: Patrick Kwan, Massimiliano Boffini, Firas Fahoum, Riëm El Tahry, Terence J. O'Brien, Karen Keough, Jane Boggs, Hadassa Goldberg‐Stern, Francesca Beraldi, Gaia Giannicola, Ying‐Chieh Lee, Arjune Sen, CORE‐VNS Registry Group

Publikováno v: Epilepsia Open, Vol 9, Iss 5, Pp 1837-1846 (2024)

Abstract Objective Vagus nerve stimulation (VNS) Therapy is routinely indicated for people with drug‐resistant epilepsy (DRE). We analyzed the baseline characteristics of individuals receiving the recently released VNS models and identified factors

Externí odkaz: https://doaj.org/article/e7d5fcdc67014b58802e736e89bd0046

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

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations

Autor: Karen Keough, Joan Jasien, Gary Kucera, Courtney Elliott, Marie McDonald, David M. Mueller, Arsen S. Hunanyan, Lyndsey Prange, Milton Pratt, Mary E. Moya-Mendez, Mohamad A. Mikati, Vandana Shashi, Cheryl B. Bock, Melanie J. Bonner

Publikováno v: Epilepsy Behav

Background ATP1A2 mutations cause hemiplegic migraine with or without epilepsy or acute reversible encephalopathy. Typical onset is in adulthood or older childhood without subsequent severe long-term developmental impairments. Aim We aimed to describ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fada455c3f3823c6d6f42562eca68866
https://pubmed.ncbi.nlm.nih.gov/33493807

Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia

Autor: Sonali Sen, James Gibson, Karen Keough

Publikováno v: Neurology. 84(15)

Intractable epilepsy is a common diagnosis among child neurology practitioners with medical management remaining unsatisfactory in many cases. GLUT1 deficiency syndrome (GLUT1-DS) is a disorder that should be considered in such situations. Evaluation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63ca7f3294c7067e8e20eb2a458e5790
https://pubmed.ncbi.nlm.nih.gov/25870456

Zinc-Binding of Endostatin Is Essential for Its Antiangiogenic Activity

Autor: Robert Shapiro, Thomas Boehm, Judah Folkman, Karen Keough, Joseph Shiloach, Michael S. O'Reilly

Publikováno v: Biochemical and Biophysical Research Communications. 252:190-194

Endostatin is a potent angiogenesis inhibitor in vitro and in vivo. We used the yeast Pichia pastoris to express and purify soluble endostatin. It was discovered that metal chelating agents can induce N-terminal degradation of endostatin. We theorize

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ad39984dd08a4c89a38dc124a4c7a04
https://doi.org/10.1006/bbrc.1998.9617