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dr. E.H. Brilstra

Assistant Professor - medical

  • Section Clinical Genetics

Research Programs

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 (119)

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.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Konrad Enrico D.H., Nardini Niels, Caliebe Almuth, Nagel Inga, Young Dana, Horvath Gabriella, Santoro Stephanie L., Shuss Christine, Ziegler Alban, Bonneau Dominique, Kempers Marlies, Pfundt Rolph, Legius Eric, Bouman Arjan, Stuurman Kyra E., Õunap Katrin, Pajusalu Sander, Wojcik Monica H., Vasileiou Georgia, Le Guyader Gwenaël, Schnelle Hege M., Berland Siren, Zonneveld-Huijssoon Evelien, Kersten Simone, Gupta Aditi, Blackburn Patrick R., Ellingson Marissa S., Ferber Matthew J., Dhamija Radhika, Klee Eric W., McEntagart Meriel, Lichtenbelt Klaske D., Kenney Amy, Vergano Samantha A., Abou Jamra Rami, Platzer Konrad, Ella Pierpont Mary, Khattar Divya, Hopkin Robert J., Martin Richard J., Jongmans Marjolijn C.J., Chang Vivian Y., Martinez-Agosto Julian A., Kuismin Outi, Kurki Mitja I., Pietiläinen Olli, Palotie Aarno, Maarup Timothy J., Johnson Diana S., Brilstra Eva H., dec 2019, In: Genetics in Medicine. 21 , p. 2723-2733 11 p.

Implications of genetic diagnostics in epilepsy surgery candidates:A single-center cohort study

Sanders Maurits W.C.B., Lemmens Cynthia M.C., Jansen Floor E., Brilstra Eva H., Koeleman Bobby P.C., Braun Kees P.J., dec 2019, In: Epilepsia Open. 4 , p. 609-617 9 p.

Correction:Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in medicine : official journal of the American College of Medical Genetics (2019) 21 2 (398-408))

Baldassari Sara et al. 1 aug 2019, In: Genetics in medicine : official journal of the American College of Medical Genetics. 21 , p. 1896 1 p.

Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes

de Lange Iris M., Weuring Wout, van ‘t Slot Ruben, Gunning Boudewijn, Sonsma Anja C.M., McCormack Mark, de Kovel Carolien, van Gemert Lisette J.J.M., Mulder Flip, van Kempen Marjan J.A., Knoers Nine V.A.M., Brilstra Eva H., Koeleman Bobby P.C. 1 jul 2019, In: Molecular Genetics and Genomic Medicine. 7

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Calpena Eduardo, Hervieu Alexia, Kaserer Teresa, Swagemakers Sigrid M.A., Goos Jacqueline A.C., Popoola Olajumoke, Ortiz-Ruiz Maria Jesus, Barbaro-Dieber Tina, Bownass Lucy, Brilstra Eva H., Brimble Elise, Foulds Nicola, Grebe Theresa A., Harder Aster V.E., Lees Melissa M., Monaghan Kristin G., Newbury-Ecob Ruth A., Ong Kai Ren, Osio Deborah, Reynoso Santos Francis Jeshira, Ruzhnikov Maura R.Z., Telegrafi Aida, van Binsbergen Ellen, van Dooren Marieke F., van der Spek Peter J., Blagg Julian, Twigg Stephen R.F., Mathijssen Irene M.J., Clarke Paul A., Wilkie Andrew O.M., 4 apr 2019, In: American Journal of Human Genetics. 104 , p. 709-720 12 p.

Punctate white-matter lesions in the full-term newborn:Underlying aetiology and outcome

Hayman Michael, van Wezel-Meijler Gerda, van Straaten Henrica, Brilstra Eva, Groenendaal Floris, de Vries Linda S. mrt 2019, In: European Journal of Paediatric Neurology. 23 , p. 280-287

Author Correction:CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)

Blok Lot Snijders, Rousseau Justine, Twist Joanna, Ehresmann Sophie, Takaku Motoki, Venselaar Hanka, Rodan Lance H., Nowak Catherine B., Douglas Jessica, Swoboda Kathryn J., Steeves Marcie A., Sahai Inderneel, Stumpel Connie T.R.M., Stegmann Alexander P.A., Wheeler Patricia, Willing Marcia, Fiala Elise, Kochhar Aaina, Gibson William T., Cohen Ana S.A., Agbahovbe Ruky, Innes A. Micheil, Au P. Y.Billie, Rankin Julia, Anderson Ilse J., Skinner Steven A., Louie Raymond J., Warren Hannah E., Afenjar Alexandra, Keren Boris, Nava Caroline, Buratti Julien, Isapof Arnaud, Rodriguez Diana, Lewandowski Raymond, Propst Jennifer, van Essen Ton, Choi Murim, Lee Sangmoon, Chae Jong H., Price Susan, Schnur Rhonda E., Douglas Ganka, Wentzensen Ingrid M., Zweier Christiane, Koopmans Marije, Brilstra Eva H., Monroe Glen R., van Gassen Koen L.I., van Binsbergen Ellen, 15 feb 2019, In: Nature Communications. 10

The landscape of epilepsy-related GATOR1 variants

Baldassari Sara et al. 1 feb 2019, In: Genetics in Medicine. 21 , p. 398-408 11 p.

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

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 8 jan 2019, In: Neurology. 92 , p. e83-e95

All Research Output (119)