dr. E.H. Brilstra
dr. E.H. Brilstra
- Section Clinical Genetics
Research Programs
Biography
Biography
Dr Eva Brilstra is a clinical geneticist working at the Department of Medical Genetics, University Medical Center, Utrecht. Her current research interest is in the genetics of epileptic encephalopathy.
Research line
Genetics of epileptic encephalopathy
Most recent key publications
1: Verbeek, Nienke E. MSc, MD; van der Maas, Nicoline A.T. MD; Sonsma, Anja C.M.; Ippel, Elly MD; Vermeer-de Bondt, Patricia E. MSc, MD; Hagebeuk, Eveline MD, PhD; Jansen, Floor E. MD, PhD; Geesink, Huibert H. MD; Braun, Kees P. MD, PhD; de Louw, Anton MD, PhD; Augustijn, Paul B. MD; Neuteboom, Rinze F. MD, PhD; Schieving, Jolanda H. MD; Stroink, Hans MD, PhD; Vermeulen, R. Jeroen MD, PhD; Nicolai, Joost MD, PhD; Brouwer, Oebele F. MD, PhD; van Kempen, Marjan PhD; de Kovel, Carolien G.F. PhD; Kemmeren, Jeanet M. PhD; Koeleman, Bobby P.C. PhD; Knoers, Nine V. MD, PhD; Lindhout, Dick MD, PhD; Gunning, W. Boudewijn MD, PhD; Brilstra, Eva H. MD, PhD. Effect of vaccinations on seizure risk and disease course in Dravet syndrome. Neurology 2015;85:596-603
2: Boerma RS, Braun KP, van den Broek MP, van Berkestijn FM, Swinkels ME, Hagebeuk EO, Lindhout D, van Kempen M, Boon M, Nicolai J, de Kovel CG, Brilstra EH, Koeleman BP. Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. [published online ahead of print Aug 9, 2015] Neurotherapeutics. doi:10.1007/s13311-015-0372-8
3: Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014;46:1327-32
4: Verbeek NE, Jansen FE, Vermeer-de Bondt PE, de Kovel CG, van Kempen MJ, Lindhout D, Knoers NV, van der Maas NA, Brilstra EH. Etiologies for seizures around the time of vaccination. Pediatrics. 2014;134:658-66.
5: van Harssel JJ, Weckhuysen S, van Kempen MJ, Hardies K, Verbeek NE, de Kovel CG, Gunning WB, van Daalen E, de Jonge MV, Jansen AC, Vermeulen RJ, Arts WF, Verhelst H, Fogarasi A, de Rijk-van Andel JF, Kelemen A, Lindhout D, De Jonghe P, Koeleman BP, Suls A, Brilstra EH. Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. Neurogenetics. 2013;14:23-34
Fellowship and Awards
1. Fonds NutsOhra project nr 0801-64: On the relationship between childhood vaccinations and Dravet syndrome (2008)
2. Stichting Vrienden UMC on behalf of the Janivo Stichting project nr 10.053: On the relationship between childhood vaccinations and Dravet syndrome (2012)
3. Stichting Vrienden WKZ on behalf of Stichting Panta Rhei project nr project 1614054: SCN1A-related seizure disorders: prediction of clinical course based on advanced genotyping (2013)
Research Output (141)
Teunissen Maria W A, Lewerissa Elly, van Hugte Eline J H, Wang Shan, Ockeloen Charlotte W, Koolen David A, Pfundt Rolph, Marcelis Carlo L M, Brilstra Eva, Howe Jennifer L, Scherer Stephen W, Le Guillou Xavier, Bilan Frédéric, Primiano Michelle, Roohi Jasmin, Piton Amelie, de Saint Martin Anne, Baer Sarah, Seiffert Simone, Platzer Konrad, Jamra Rami Abou, Syrbe Steffen, Doering Jan Henje, Lakhani Shenela, Nangia Srishti, Gilissen Christian, Vermeulen R Jeroen, Rouhl Rob P W, Brunner Han G, Willemsen Marjolein H, Kasri Nael Nadif 17 May 2023, In: Human molecular genetics. 32 , p. 2373-2385 13 p.
Postma Amber, Milota Megan, Jongmans Marian J, Brilstra Eva H, Zinkstok Janneke R 7 Dec 2022, In: Epilepsy & Behavior. 138 8 p.
Kayumi Sayaka et al. 9 Sep 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 24 , p. 2351-2366 16 p.
Miceli Francesco, Millevert Charissa, Soldovieri Maria Virginia, Mosca Ilaria, Ambrosino Paolo, Carotenuto Lidia, Schrader Dewi, Lee Hyun Kyung, Riviello James, Hong William, Risen Sarah, Emrick Lisa, Amin Hitha, Ville Dorothée, Edery Patrick, de Bellescize Julitta, Michaud Vincent, Van-Gils Julien, Goizet Cyril, Willemsen Marjolein H, Kleefstra Tjitske, Møller Rikke S, Bayat Allan, Devinsky Orrin, Sands Tristan, Korenke G Christoph, Kluger Gerhard, Mefford Heather C, Brilstra Eva, Lesca Gaetan, Milh Mathieu, Cooper Edward C, Taglialatela Maurizio, Weckhuysen Sarah Jul 2022, In: EBioMedicine. 81 , p. 1-15
Demaegd Koen, Brilstra Eva H, Hoogendijk Jessica E, de Bie Charlotte I, de Pagter Mirjam S, van Hecke Wim, Mühlebner Angelika, van Es Michael A, Milone Margherita, van Rheenen Wouter Jun 2022, In: Neuromuscular Disorders. 32 , p. 527-532 6 p.
Johannesen Katrine M et al. 23 May 2022, In: Brain : a journal of neurology. 145 , p. 2991-3009 19 p.
Brunklaus Andreas, Pérez-Palma Eduardo, Ghanty Ismael, Xinge Ji, Brilstra Eva, Ceulemans Berten, Chemaly Nicole, de Lange Iris, Depienne Christel, Guerrini Renzo, Mei Davide, Møller Rikke S, Nabbout Rima, Regan Brigid M, Schneider Amy L, Scheffer Ingrid E, Schoonjans An-Sofie, Symonds Joseph D, Weckhuysen Sarah, Kattan Michael W, Zuberi Sameer M, Lal Dennis 15 Mar 2022, In: Neurology. 98 , p. e1163-e1174
O'Donohue Marie-Françoise, Da Costa Lydie M, Lezzerini Marco, Unal Sule, Joret Clément, Bartels Marije, Brilstra Eva, Scheijde-Vermeulen Marijn, Wacheul Ludivine, De Keersmaecker Kim, Vereecke Stijn, Labarque Veerle, Saby Manon Juliette, LeFevre Sophie D, Platon Jessica, Montel-Lehry Nathalie, Laugero Nathalie, Lacazette Eric, van Gassen Koen, Houtkooper Riekelt H, Simsek-Kiper Pelin Ozlem, Leblanc Thierry M, Yarali Nese, Cetinkaya Arda, Akarsu Nurten A, Gleizes Pierre-Emmanuel, Lafontaine Denis L J, MacInnes Alyson W 25 Feb 2022, In: Blood. 139 , p. 3111-3126 16 p.
de Boer Eva M J, van Rheenen Wouter, Goedee H Stephan, Kamsteeg Erik-Jan, Brilstra Eva H, Veldink Jan H, van Den Berg Leonard H, van Es Michael A Nov 2021, In: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 22 , p. 561-570 10 p.
Spinelli Egidio, Christensen Kyle R, Bryant Emily, Schneider Amy, Rakotomamonjy Jennifer, Muir Alison M, Giannelli Jessica, Littlejohn Rebecca O, Roeder Elizabeth R, Schmidt Berkley, Wilson William G, Marco Elysa J, Iwama Kazuhiro, Kumada Satoko, Pisano Tiziana, Barba Carmen, Vetro Annalisa, Brilstra Eva H, van Jaarsveld Richard H, Matsumoto Naomichi, Goldberg-Stern Hadassa, Carney Patrick W, Andrews P Ian, El Achkar Christelle M, Berkovic Sam, Rodan Lance H, McWalter Kirsty, Guerrini Renzo, Scheffer Ingrid E, Mefford Heather C, Mandelstam Simone, Laux Linda, Millichap John J, Guemez-Gamboa Alicia, Nairn Angus C, Carvill Gemma L, Aug 2021, In: Annals of Neurology. 90 , p. 274-284 11 p.