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 (146)
Cornelis Candice, Dondorp Wybo, Bolt Ineke, de Wert Guido, van Summeren Marieke, Brilstra Eva, Knoers Nine, Bredenoord Annelien L Dec 2023, In: BMC Medical Ethics. 24 10 p.
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 Sep 2023, In: PLoS ONE. 18 17 p.
Minderhoud C A, Postma A, Jansen F E, Verhoeven J S, Schrijver J J, Goudswaard J, Andreae G, Otte W M, Braun K P J, Brilstra E H 29 Jul 2023, In: Epilepsy & Behavior. 146 8 p.
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 24 Jun 2023, In: Drug Discovery Today. 28 9 p.
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.
Buijsse Nathan, Jansen Floor E, Ockeloen Charlotte W, van Kempen Marjan J A, Zeidler Shimriet, Willemsen Marjolein H, Scarano Emanuela, Monticone Sonia, Zonneveld-Huijssoon Evelien, Low Karen J, Bayat Allan, Sisodiya Sanjay M, Samanta Debopam, Lesca Gaetan, de Jong Danielle, Giltay Jaqcues C, Verbeek Nienke E, Kleefstra Tjitske, Brilstra Eva H, Vlaskamp Danique R M 2023, In: Epilepsia Open. 8 , p. 1300-1313 14 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.