Resultados da busca - Eva H. Brilstra
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Prevalence of SCN1A-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study por Nienke E. Verbeek, Nicoline van der Maas, Floor E. Jansen, Marjan J. A. van Kempen, Dick Lindhout, Eva H. Brilstra
Publicado em 2013Artigo -
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Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes por Amber Postma, Crista A. Minderhoud, Willem M. Otte, Floor E. Jansen, W. Boudewijn Gunning, Judith Verhoeven, Marian J. Jongmans, Janneke Zinkstok, Eva H. Brilstra
Publicado em 2024Artigo -
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Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in <i><scp>SCN</scp>1A</i>‐related sei... por Iris Lange, Boudewijn Gunning, Anja C. M. Sonsma, Lisette van Gemert, Marjan van Kempen, Nienke E. Verbeek, Joost Nicolai, Nine Knoers, Bobby P.C. Koeleman, Eva H. Brilstra
Publicado em 2018Artigo -
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Outcomes and comorbidities of SCN1A-related seizure disorders por Iris Lange, Boudewijn Gunning, Anja C. M. Sonsma, Lisette van Gemert, Marjan van Kempen, Nienke E. Verbeek, Claudia Sinoo, Joost Nicolai, Nine Knoers, Bobby P.C. Koeleman, Eva H. Brilstra
Publicado em 2018Artigo -
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N‐of‐1 trials in epilepsy: A systematic review and lessons paving the way forward por Victoria Defelippe, Eva H. Brilstra, Willem M. Otte, J. Helen Cross, Finbar O’Callaghan, Valentina De Giorgis, Annapurna Poduri, Holger Lerche, Sanjay M. Sisodiya, Kees P. J. Braun, Floor E. Jansen, Emilio Perucca
Publicado em 2024Revisão -
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Toward responsible clinical n-of-1 strategies for rare diseases por Victoria Defelippe, Ghislaine J. M. W. van Thiel, Willem M. Otte, Roger E. G. Schutgens, Bas C. Stunnenberg, J. Helen Cross, Finbar O’Callaghan, Valentina De Giorgis, Floor E. Jansen, Emilio Perucca, Eva H. Brilstra, Kees P. J. Braun
Publicado em 2023Revisão -
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Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy por Carolien G. F. de Kovel, Miriam H. Meisler, Eva H. Brilstra, Frédérique M.C. van Berkestijn, Ruben van ‘t Slot, Stef van Lieshout, Isaäc J. Nijman, Janelle E. O’Brien, Michael F. Hammer, Mark Estación, Stephen G. Waxman, Sulayman D. Dib‐Hajj, Bobby P.C. Koeleman
Publicado em 2014Artigo -
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Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach por Ragna S. Boerma, Kees P. J. Braun, Maarten P.H. van de Broek, Frédérique M.C. van Berkestijn, Mariëlle E.M. Swinkels, Eveline O. Hagebeuk, Dick Lindhout, Marjan van Kempen, Maartje Boon, Joost Nicolai, Carolien G. F. de Kovel, Eva H. Brilstra, Bobby P.C. Koeleman
Publicado em 2015Artigo -
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Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism por Emma van Daalen, Chantal Kemner, Nienke E. Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske H. Houben, Ruben van ‘t Slot, Maretha Jonge, Wouter Staal, Frits A. Beemer, Jacob Vorstman, J. Peter H. Burbach, Hans Kristian Ploos van Amstel, Ron Hochstenbach, Eva H. Brilstra, Martin Poot
Publicado em 2011Artigo -
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Male patients affected by mosaic PCDH19 mutations: five new cases por Iris Lange, Patrick Rump, Rinze F. Neuteboom, Paul B. Augustijn, K. Hodges, A. I. Kistemaker, Oebele F. Brouwer, Grazia M.S. Mancini, Hadas Newman, Yvonne J. Vos, Katherine L. Helbig, Cacha Peeters‐Scholte, Marjolein Kriek, N. Knoers, Dick Lindhout, Bobby P.C. Koeleman, Marjan J. A. van Kempen, Eva H. Brilstra
Publicado em 2017Artigo -
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Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies por D.S. Gallagher, Eduardo Pérez‐Palma, Tobias Bruenger, Ismael Ghanty, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus
Publicado em 2024Artigo -
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Mosaicism of de novo pathogenic <i><scp>SCN</scp>1A</i> variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes por Iris Lange, Marco J. Koudijs, Ruben van ‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Lisette J. J. M. van Gemert, Flip Mulder, Ellen C. Carbo, Marjan J. A. van Kempen, Nienke E. Verbeek, Isaäc J. Nijman, Robert F. Ernst, Sanne M. C. Savelberg, Nine Knoers, Eva H. Brilstra, Bobby P.C. Koeleman
Publicado em 2018Artigo -
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Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies por Andreas Brunklaus, Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Michael W. Kattan, Sameer M. Zuberi, Dennis Lal
Publicado em 2022Artigo
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Medicine
Biology
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Epilepsy
Psychiatry
Phenotype
Internal medicine
Neuroscience
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Missense mutation
Psychology
Dravet syndrome
Encephalopathy
Autism
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Autism spectrum disorder
Copy-number variation
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