Search Results - "Brilstra, Eva"

De novo mutations in HCN1 cause early infantile epileptic encephalopathy by Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel

“…Christel Depienne, Eric LeGuern and colleagues report the identification of 5 de novo missense mutations in HCN1 in individuals with early-onset epileptic…”
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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 SCN1A‐related seizure phenotypes by Lange, Iris M., Gunning, Boudewijn, Sonsma, Anja C. M., Gemert, Lisette, Kempen, Marjan, Verbeek, Nienke E., Nicolai, Joost, Knoers, Nine V. A. M., Koeleman, Bobby P. C., Brilstra, Eva H.

“…Summary Objective Pathogenic variants in SCN1A can give rise to extremely variable disease severities that may be indistinguishable at their first…”
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Behavior problems and health-related quality of life in Dravet syndrome by Sinoo, Claudia, de Lange, Iris Marie-Louise, Westers, Paul, Gunning, Willem Boudewijn, Jongmans, Marian Jacqueline, Brilstra, Eva Henriëtte

“…Behavior problems in Dravet syndrome (DS) are common and can impact the lives of patients tremendously. The current study aimed to give more insight into (1)…”
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Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start by Stelten, Bianca M.L, Huidekoper, Hidde H, van de Warrenburg, Bart P.C, Brilstra, Eva H, Hollak, Carla E.M, Haak, Harm.R, Kluijtmans, Leo A.J, Wevers, Ron A, Verrips, Aad

“…OBJECTIVETo evaluate the effect of chenodeoxycholic acid treatment on disease progression in cerebrotendinous xanthomatosis (CTX). METHODSIn this retrospective…”
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Challenging behavior in children and adolescents with Dravet syndrome: Exploring the lived experiences of parents by Postma, Amber, Milota, Megan, Jongmans, Marian J., Brilstra, Eva H., Zinkstok, Janneke R.

“…•Parents report challenging behaviors in their children with Dravet syndrome.•Patients with Dravet syndrome show different behavior per age group.•Caring for a…”
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Identification of candidate genes for developmental colour agnosia in a single unique family by Nijboer, Tanja C. W, Hessel, Ellen V. S, van Haaften, Gijs W, van Zandvoort, Martine J, van der Spek, Peter J, Troelstra, Christine, de Kovel, Carolien G. F, Koeleman, Bobby P. C, van der Zwaag, Bert, Brilstra, Eva H, Burbach, J. Peter H

“…Colour agnosia is a disorder that impairs colour knowledge (naming, recognition) despite intact colour perception. Previously, we have identified the first and…”
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum by Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco

“…Signal transduction through the RAF-MEK-ERK pathway, the first described mitogen-associated protein kinase (MAPK) cascade, mediates multiple cellular processes…”
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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy by de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van 't Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C

“…Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we…”
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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes by Schubert, Julian, Siekierska, Aleksandra, Langlois, Mélanie, May, Patrick, Huneau, Clément, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid, Lemke, Johannes R, de Kovel, Carolien G F, Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R, Sander, Thomas, Rüschendorf, Franz, Caliebe, Almuth, Nagel, Inga, Kohl, Bernard, Kecskés, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H, Baulac, Stephanie, Møller, Rikke S, Hjalgrim, Helle, Koeleman, Bobby P C, Jurkat-Rott, Karin, Lehmann-Horn, Frank, Roach, Jared C, Glusman, Gustavo, Hood, Leroy, Galas, David J, Martin, Benoit, de Witte, Peter A M, Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo, Balling, Rudi, Nürnberg, Peter, Crawford, Alexander D, Esguerra, Camila V, Weber, Yvonne G, Lerche, Holger

“…Holger Lerche, Camila Esguerra and colleagues report the identification of inactivating mutations in STX1B in individuals with various seizure-related…”
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N‐of‐1 trials in epilepsy: A systematic review and lessons paving the way forward by Defelippe, Victoria M., Brilstra, Eva H., Otte, Willem M., Cross, Helen J., O'Callaghan, Finbar, De Giorgis, Valentina, Poduri, Annapurna, Lerche, Holger, Sisodiya, Sanjay, Braun, Kees P. J., Jansen, Floor E., Perucca, Emilio

“…Objective Defined as prospective single‐patient crossover studies with repeated paired cycles of active and control intervention, N‐of‐1 trials have gained…”
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Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review by Stevelink, Remi, Sanders, Maurits WCB, Tuinman, Maarten P., Brilstra, Eva H., Koeleman, Bobby PC, Jansen, Floor E., Braun, Kees PJ

“…ABSTRACT Aims. In recent years, many different DNA mutations underlying the development of refractory epilepsy have been discovered. However, genetic…”
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Toward responsible clinical n-of-1 strategies for rare diseases by Defelippe, Victoria M., J.M.W. van Thiel, Ghislaine, Otte, Willem M., Schutgens, Roger E.G., Stunnenberg, Bas, Cross, Helen J., O'Callaghan, Finbar, De Giorgis, Valentina, Jansen, Floor E., Perucca, Emilio, Brilstra, Eva H., Braun, Kees P.J.

“…•There are few licensed, effective treatments for rare diseases.•In an n-of-1 strategy one individual is the unit of observation to assess therapy efficacy and…”
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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies by Møller, Rikke S, Wuttke, Thomas V, Helbig, Ingo, Marini, Carla, Johannesen, Katrine M, Brilstra, Eva H, Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L, Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T, Larsen, Line H.G, Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L, Dahl, Hans A, Tommerup, Niels, Mefford, Heather C, Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R, Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana

“…OBJECTIVE:To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to…”
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Somatic variant analysis of resected brain tissue in epilepsy surgery patients by Sanders, Maurits W C B, Koeleman, Bobby P C, Brilstra, Eva H, Jansen, Floor E, Baldassari, Sara, Chipaux, Mathilde, Sim, Nam Suk, Ko, Ara, Kang, Hoon-Chul, Blümcke, Ingmar, Lal, Dennis, Baulac, Stéphanie, Lee, Jeong Ho, Aronica, Eleonora, Braun, Kees P J

“…We studied the distribution of germline and somatic variants in epilepsy surgery patients with (suspected) malformations of cortical development (MCD) who…”
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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes by de Kovel, Carolien G F, Syrbe, Steffen, Brilstra, Eva H, Verbeek, Nienke, Kerr, Bronwyn, Dubbs, Holly, Bayat, Allan, Desai, Sonal, Naidu, Sakkubai, Srivastava, Siddharth, Cagaylan, Hande, Yis, Uluc, Saunders, Carol, Rook, Martin, Plugge, Susanna, Muhle, Hiltrud, Afawi, Zaid, Klein, Karl-Martin, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Goldberg, Ethan, Marsh, Eric, Kessler, Sudha, Bergqvist, Christina, Conlin, Laura K, Krok, Bryan L, Thiffault, Isabelle, Pendziwiat, Manuela, Helbig, Ingo, Polster, Tilman, Borggraefe, Ingo, Lemke, Johannes R, van den Boogaardt, Marie-José, Møller, Rikke S, Koeleman, Bobby P C

“…Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant…”
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Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes by Postma, Amber, Minderhoud, Crista A., Otte, Wim M., Jansen, Floor E., Gunning, W.B., Verhoeven, Judith S., Jongmans, Marian J., Zinkstok, Janneke R., Brilstra, Eva H.

“…•Behavioral difficulties are highly prevalent in Dravet syndrome patients.•DS behavioral profile exhibits attention problems, withdrawn- and aggressive…”
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Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child's future autonomy by Tibben, Aad, Dondorp, Wybo, Cornelis, Candice, Knoers, Nine, Brilstra, Eva, van Summeren, Marieke, Bolt, Ineke

“…In a previous study we found that parents of children with developmental delay (DD) favoured acceptance of unsolicited findings (UFs) for medically actionable…”
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Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study by Verbeek, Nienke E, van der Maas, Nicoline A T, Jansen, Floor E, van Kempen, Marjan J A, Lindhout, Dick, Brilstra, Eva H

“…To determine the prevalence of Dravet syndrome, an epileptic encephalopathy caused by SCN1A-mutations, often with seizure onset after vaccination, among…”
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Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach by Boerma, Ragna S., Braun, Kees P., van de Broek, Maarten P. H., van Berkestijn, Frederique M. C., Swinkels, Marielle E., Hagebeuk, Eveline O., Lindhout, Dick, van Kempen, Marjan, Boon, Maartje, Nicolai, Joost, de Kovel, Carolien G., Brilstra, Eva H., Koeleman, Bobby P. C.

“…Mutations in SCN8A are associated with epilepsy and intellectual disability. SCN8A encodes for sodium channel Nav1.6, which is located in the brain…”
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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability by Houge, Gunnar, Haesen, Dorien, Vissers, Lisenka E L M, Mehta, Sarju, Parker, Michael J, Wright, Michael, Vogt, Julie, McKee, Shane, Tolmie, John L, Cordeiro, Nuno, Kleefstra, Tjitske, Willemsen, Marjolein H, Reijnders, Margot R F, Berland, Siren, Hayman, Eli, Lahat, Eli, Brilstra, Eva H, van Gassen, Koen L I, Zonneveld-Huijssoon, Evelien, de Bie, Charlotte I, Hoischen, Alexander, Eichler, Evan E, Holdhus, Rita, Steen, Vidar M, Døskeland, Stein Ove, Hurles, Matthew E, FitzPatrick, David R, Janssens, Veerle

“…Here we report inherited dysregulation of protein phosphatase activity as a cause of intellectual disability (ID). De novo missense mutations in 2 subunits of…”
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