Back

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 (124)

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 mei 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22 , p. 1413-1417 5 p.

Modifier genes in SCN1A-related epilepsy syndromes

de Lange Iris M, Mulder Flip, van 't Slot Ruben, Sonsma Anja C M, van Kempen Marjan J A, Nijman Isaac J, Ernst Robert F, Knoers Nine V A M, Brilstra Eva H, Koeleman Bobby P C 1 apr 2020, In: Molecular Genetics & Genomic Medicine. 8

Cardiac arrhythmias in Dravet syndrome:an observational multicenter study

Shmuely Sharon, Surges Rainer, Helling Robert M, Gunning W Boudewijn, Brilstra Eva H, Verhoeven Judith S, Cross J Helen, Sisodiya Sanjay M, Tan Hanno L, Sander Josemir W, Thijs Roland D 1 apr 2020, In: Annals of Clinical and Translational Neurology. 7 , p. 462-473 12 p.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Johannesen Katrine M, Mitter Diana, Janowski Robert, Roth Christian, Toulouse Joseph, Poulat Anne-Lise, Ville Dorothee M, Chatron Nicolas, Brilstra Eva, Geleijns Karin, Born Alfred Peter, McLean Scott, Nugent Kimberly, Baynam Gareth, Poulton Cathryn, Dreyer Lauren, Gration Dylan, Schulz Solveig, Dieckmann Andrea, Helbig Katherine L, Merkenschlager Andreas, Jamra Rami, Finck Anja, Gardella Elena, Hjalgrim Helle, Mirzaa Ghayda, Brancati Francesco, Bierhals Tatjana, Denecke Jonas, Hempel Maja, Lemke Johannes R, Rubboli Guido, Muschke Petra, Guerrini Renzo, Vetro Annalisa, Niessing Dierk, Lesca Gaetan, Møller Rikke S dec 2019, In: Neurology. Genetics. 5 10 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.

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Pennings Maartje, Schouten Meyke I., van Gaalen Judith, Meijer Rowdy P.P., de Bot Susanne T., Kriek Marjolein, Saris Christiaan G.J., van den Berg Leonard H., van Es Michael A., Zuidgeest Dick M.H., Elting Mariet W., van de Kamp Jiddeke M., van Spaendonck-Zwarts Karin Y., Die-Smulders Christine de, Brilstra Eva H., Verschuuren Corien C., de Vries Bert B.A., Bruijn Jacques, Sofou Kalliopi, Duijkers Floor A., Jaeger B., Schieving Jolanda H., van de Warrenburg Bart P., Kamsteeg Erik Jan 5 sep 2019, In: European Journal of Human Genetics. 28 , p. 40-49 10 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

All research output