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dr. E.H. Brilstra

dr. E.H. Brilstra

Assistant Professor - medical
  • Section Clinical Genetics

Research Programs

Brain

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 (133)

Genotype-phenotype correlations of KIF5A stalk domain variants

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.

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

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.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Cousin Margot A, Creighton Blake A, Breau Keith A, Spillmann Rebecca C, Torti Erin, Dontu Sruthi, Tripathi Swarnendu, Ajit Deepa, Edwards Reginald J, Afriyie Simone, Bay Julia C, Harper Kathryn M, Beltran Alvaro A, Munoz Lorena J, Falcon Rodriguez Liset, Stankewich Michael C, Person Richard E, Si Yue, Normand Elizabeth A, Blevins Amy, May Alison S, Bier Louise, Aggarwal Vimla, Mancini Grazia M S, van Slegtenhorst Marjon A, Cremer Kirsten, Becker Jessica, Engels Hartmut, Aretz Stefan, MacKenzie Jennifer J, Brilstra Eva, van Gassen Koen L I, van Jaarsveld Richard H, Oegema Renske, Parsons Gretchen M, Mark Paul, Helbig Ingo, McKeown Sarah E, Stratton Robert, Cogne Benjamin, Isidor Bertrand, Cacheiro Pilar, Smedley Damian, Firth Helen V, Bierhals Tatjana, Kloth Katja, Weiss Deike, Fairley Cecilia, Shieh Joseph T, Kritzer Amy, 1 Jul 2021, In: Nature Genetics. 53 , p. 1006-1021+ 16 p.

CSNK2B:A broad spectrum of neurodevelopmental disability and epilepsy severity

Ernst Michelle E, Baugh Evan H, Thomas Amanda, Bier Louise, Lippa Natalie, Stong Nicholas, Mulhern Maureen S, Kushary Sulagna, Akman Cigdem I, Heinzen Erin L, Yeh Raymond, Bi Weimin, Hanchard Neil A, Burrage Lindsay C, Leduc Magalie S, Chong Josephine S C, Bend Renee, Lyons Michael J, Lee Jennifer A, Suwannarat Pim, Brilstra Eva, Simon Marleen, Koopmans Marije, van Binsbergen Ellen, Groepper Daniel, Fleischer Julie, Nava Caroline, Keren Boris, Mignot Cyril, Mathieu Sophie, Mancini Grazia M S, Madan-Khetarpal Suneeta, Infante Elena M, Bluvstein Judith, Seeley Andrea, Bachman Kristine, Klee Eric W, Schultz-Rogers Laura E, Hasadsri Linda, Barnett Sarah, Ellingson Marissa S, Ferber Matthew J, Narayanan Vinodh, Ramsey Keri, Rauch Anita, Joset Pascal, Steindl Katharina, Sheehan Theodore, Poduri Annapurna, Vasquez Alejandra, Ruivenkamp Claudia, White Susan M, Pais Lynn, Monaghan Kristin G, Goldstein David B, Sands Tristan T, Aggarwal Vimla Jul 2021, In: Epilepsia. 62 , p. e103-e109

Parents, their children, whole exome sequencing and unsolicited findings:growing towards the child’s future autonomy

Tibben Aad, Dondorp Wybo, Cornelis Candice, Knoers Nine, Brilstra Eva, van Summeren Marieke, Bolt Ineke Jun 2021, In: European Journal of Human Genetics. 29 , p. 911-919 9 p.

Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy

Vlaskamp Danique R M, Rump Patrick, Callenbach Petra M C, Brilstra Eva H, Velthuizen Mary E, Brouwer Oebele F, Ranchor Adelita V, van Ravenswaaij-Arts Conny M A May 2021, In: European Journal of Paediatric Neurology. 32 , p. 128-135 8 p.

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner Chiara, Sticht Heinrich, Zacher Pia, Popp Bernt, Babcock Holly E, Bakker Dewi P, Barwick Katy, Bonfert Michaela V, Bönnemann Carsten G, Brilstra Eva H, Chung Wendy K, Clarke Angus J, Devine Patrick, Donkervoort Sandra, Fraser Jamie L, Friedman Jennifer, Gates Alyssa, Ghoumid Jamal, Hobson Emma, Horvath Gabriella, Keller-Ramey Jennifer, Keren Boris, Kurian Manju A, Lee Virgina, Leppig Kathleen A, Lundgren Johan, McDonald Marie T, McLaughlin Heather M, McTague Amy, Mefford Heather C, Mignot Cyril, Mikati Mohamad A, Nava Caroline, Raymond F Lucy, Sampson Julian R, Sanchis-Juan Alba, Shashi Vandana, Shieh Joseph T C, Shinawi Marwan, Slavotinek Anne, Stödberg Tommy, Stong Nicholas, Sullivan Jennifer A, Taylor Ashley C, Toler Tomi L, van den Boogaard Marie-José, van der Crabben Saskia N, van Gassen Koen L I, van Jaarsveld Richard H, Van Ziffle Jessica, Apr 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 796 1 p.

NEXMIF encephalopathy:an X-linked disorder with male and female phenotypic patterns

Stamberger Hannah, Hammer Trine B, Gardella Elena, Vlaskamp Danique R M, Bertelsen Birgitte, Mandelstam Simone, de Lange Iris, Zhang Jing, Myers Candace T, Fenger Christina, Afawi Zaid, Almanza Fuerte Edith P, Andrade Danielle M, Balcik Yunus, Ben Zeev Bruria, Bennett Mark F, Berkovic Samuel F, Isidor Bertrand, Bouman Arjan, Brilstra Eva, Busk Øyvind L, Cairns Anita, Caumes Roseline, Chatron Nicolas, Dale Russell C, de Geus Christa, Edery Patrick, Gill Deepak, Granild-Jensen Jacob Bie, Gunderson Lauren, Gunning Boudewijn, Heimer Gali, Helle Johan R, Hildebrand Michael S, Hollingsworth Georgie, Kharytonov Volodymyr, Klee Eric W, Koeleman Bobby P C, Koolen David A, Korff Christian, Küry Sébastien, Lesca Gaetan, Lev Dorit, Leventer Richard J, Mackay Mark T, Macke Erica L, McEntagart Meriel, Mohammad Shekeeb S, Monin Pauline, Verbeek Nienke, Feb 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 363-373 11 p.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Carvill Gemma L, Helbig Katherine L, Myers Candace T, Scala Marcello, Huether Robert, Lewis Sara, Kruer Tyler N, Guida Brandon S, Bakhtiari Somayeh, Sebe Joy, Tang Sha, Stickney Heather, Oktay Sehribani Ulusoy, Bhandiwad Ashwin A, Ramsey Keri, Narayanan Vinodh, Feyma Timothy, Rohena Luis O, Accogli Andrea, Severino Mariasavina, Hollingsworth Georgina, Gill Deepak, Depienne Christel, Nava Caroline, Sadleir Lynette G, Caruso Paul A, Lin Angela E, Jansen Floor E, Koeleman Bobby, Brilstra Eva, Willemsen Marjolein H, Kleefstra Tjitske, Sa Joaquim, Mathieu Marie-Laure, Perrin Laurine, Lesca Gaetan, Striano Pasquale, Casari Giorgio, Scheffer Ingrid E, Raible David, Sattlegger Evelyn, Capra Valeria, Padilla-Lopez Sergio, Mefford Heather C, Kruer Michael C Jul 2020, In: Human mutation. 41 , p. 1263-1279 17 p.

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Singh Sakshi, Gupta Aditi, Zech Michael, Sigafoos Ashley N, Clark Karl J, Dincer Yasemin, Wagner Matias, Humberson Jennifer B, Green Sarah, van Gassen Koen, Brandt Tracy, Schnur Rhonda E, Millan Francisca, Si Yue, Mall Volker, Winkelmann Juliane, Gavrilova Ralitza H, Klee Eric W, Engleman Kendra, Safina Nicole P, Slaugh Rachel, Bryant Emily M, Tan Wen-Hann, Granadillo Jorge, Misra Sunita N, Schaefer G Bradley, Towner Shelley, Brilstra Eva H, Koeleman Bobby P C 5 May 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22 , p. 1413-1417 5 p.

All research output

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