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dr. E.H. (Eva) Brilstra

dr. E.H. (Eva) Brilstra

Assistant Professor - medical

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Research Output (146)

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Houge Gunnar, Haesen Dorien, Vissers Lisenka E L M, Mehta Sarju, Parker Michael J., Wright Michael, Vogt Julie, McKee Shane, Tolmie John L., Cordeiro Nuno, Kleefstra Tjitske, Willemsen Marjolein H., Reijnders Margot R F, Berland Siren, Hayman Eli, Lahat Eli, Brilstra Eva H., Van Gassen Koen L I, Zonneveld-Huijssoon Evelien, De Bie Charlotte I., Hoischen Alexander, Eichler Evan E., Holdhus Rita, Steen Vidar M., Døskeland Stein Ove, Hurles Matthew E., FitzPatrick David R., Janssens Veerle 1 Jan 2015, In: Journal of Clinical Investigation. 125 , p. 3051-3062 12 p.

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Schubert Julian, Siekierska Aleksandra, Langlois Melanie, May Patrick, Huneau Clement, Becker Felicitas, Muhle Hiltrud, Suls Arvid, Lemke Johannes R., de Kovel Carolien G F , Thiele Holger, Konrad Kathryn, Kawalia Amit, Toliat Mohammad R., Sander Thomas, Rueschendorf Franz, Caliebe Almuth, Nagel Inga, Kohl Bernard, Kecskes Angela, Jacmin Maxime, Hardies Katia, Weckhuysen Sarah, Riesch Erik, Dorn Thomas, Brilstra Eva H., Baulac Stephanie, Moller Rikke S., Hjalgrim Helle, Koeleman Bobby P. C. , Jurkat-Rott Karin, Lehman-Horn Frank, Roach Jared C., Glusman Gustavo, Hood Leroy, Galas David J., Martin Benoit, de Witte Peter A. M., Biskup Saskia, De Jonghe Peter, Helbig Ingo, Balling Rudi, Nuernberg Peter, Crawford Alexander D., Esguerra Camila V., Weber Yvonne G., Lerche Holger, , Koeleman BPC Dec 2014, In: Nature Genetics. 46 , p. 1327-1332 6 p.

Structural genomic variation in childhood epilepsies with complex phenotypes

Helbig I., Swinkels M.E.M., Aten E., Caliebe A., van ´t Slot R., Boor R., von Spiczak S., Muhle H., Jähn J.A., van Binsbergen E., van Nieuwenhuizen O., Jansen F.E., Braun K.P.J., de Haan G.J., Tommerup N., Stephani U., Hjalgrim H., Poot M., Lindhout D., Brilstra E.H., Møller R.S., Koeleman B.P.C. Jul 2014, In: European Journal of Human Genetics. 22 , p. 896-901 6 p.

Effect of modifications of the national vaccination program on seizure risk following pertussis vaccination in Dravet syndrome patients in the Netherlands

Verbeek N.E., Sonsma A.C.M., Ippel P.F., Vermeer-de Bondt P.E., Gunning W.B., Jansen F.E., van Kempen M.J.A., Knoers V.V.A.M., Lindhout D., van der Maas N.A., Brilstra E.H. 29 Jun 2014,

INTRODUCTION OF GENE PANELS IN DNA DIAGNOSTICS FOR EPILEPSY

van Kempen M., Brilstra E., van der Zwaag B., Verbeek N., Elferink M., Jansen F., van Zon P., Lindhout D., van Amstel Ploos H. K. Jun 2014, In: Epilepsia. 55 , p. 218-218

Potential causes of diagnostic delays in Dravet syndrome: a genetic cause of epilepsy and intellectual disability with a recognizable phenotype

Verbeek N.E., Ippel P.F., Sonsma A.C.M., Gunning W.B., Jansen F.E., van Kempen M.J.A., Knoers V.V.A.M., Lindhout D., Brilstra E.H. 17 Mar 2014,

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Nava Caroline, Dalle Carine, Rastetter Agnès, Striano Pasquale, De Kovel Carolien G.F., Nabbout Rima, Cancès Claude, Ville Dorothée, Brilstra Eva H., Gobbi Giuseppe, Raffo Emmanuel, Bouteiller Delphine, Marie Yannick, Trouillard Oriane, Robbiano Angela, Keren Boris, Agher Dahbia, Roze Emmanuel, Lesage Suzanne, Nicolas Aude, Brice Alexis, Baulac Michel, Vogt Cornelia, El Hajj Nady, Schneider Eberhard, Suls Arvid, Weckhuysen Sarah, Gormley Padhraig, Lehesjoki Anna-Elina, De Jonghe Peter, Helbig Ingo, Baulac Stéphanie, Zara Federico, Koeleman Bobby P.C., Haaf Thomas, Leguern Eric, Depienne Christel 2014, In: Nature Genetics. 46 , p. 640-645 6 p.

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

de Kovel C.G.F., Meisler M.H., Brilstra E.H., van Berkestijn F.M.C., van ´t Slot R., van Lieshout S., Nijman I.J., O'Brien J.E, Hammer M.F., Estacion M., Waxman S.G., Dib-Haij S.D., Koeleman B.P.C. 2014, In: Epilepsy Research. 108 , p. 1511-1518 8 p.

Etiologies for seizures around the time of vaccination

Verbeek N.E., Jansen F.E., Vermeer-de Bondt P.E., de Kovel C.G.F., van Kempen M.J.A., Lindhout D., Knoers V.V.A.M., Maas N.A.T., Brilstra E.H. 2014, In: Pediatrics. 134 , p. 658-666 9 p.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

van der Crabben S.N., Harakalova M., Brilstra E.H., van Berkestijn F.M.C., Hofstede F.C., van Vught A.J., Cuppen E., Kloosterman W.P., Ploos van Amstel H.K., van Haaften G., van Haelst M.M. 2014, In: American Journal of Medical Genetics. Part A. 164 , p. 29-35 7 p.

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