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dr. E.H. Brilstra

dr. E.H. Brilstra

Assistant Professor - medical

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Research Output (146)

NBEA:Developmental disease gene with early generalized epilepsy phenotypes

Mulhern Maureen S, Stumpel Constance, Stong Nicholas, Brunner Han G, Bier Louise, Lippa Natalie, Riviello James, Rouhl Rob P W, Kempers Marlies, Pfundt Rolph, Stegmann Alexander P A, Kukolich Mary K, Telegrafi Aida, Lehman Anna, Lopez-Rangel Elena, Houcinat Nada, Barth Magalie, den Hollander Nicolette, Hoffer Mariette J V, Weckhuysen Sarah, Roovers Jolien, Djemie Tania, Barca Diana, Ceulemans Berten, Craiu Dana, Lemke Johannes R, Korff Christian, Mefford Heather C, Meyers Candace T, Siegler Zsuzsanna, Hiatt Susan M, Cooper Gregory M, Bebin E Martina, Snijders Blok Lot, Veenstra-Knol Hermine E, Baugh Evan H, Brilstra Eva H, Volker-Touw Catharina M L, van Binsbergen Ellen, Revah-Politi Anya, Pereira Elaine, McBrian Danielle, Pacault Mathilde, Isidor Bertrand, Le Caignec Cedric, Gilbert-Dussardier Brigitte, Bilan Frederic, Heinzen Erin L, Goldstein David B, Stevens Servi J C, Nov 2018, In: Annals of Neurology. 84 , p. 788-795 8 p.

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes

de Lange Iris M., Gunning Boudewijn, Sonsma Anja C.M., van Gemert Lisette, van Kempen Marjan, Verbeek Nienke E., Nicolai Joost, Knoers Nine V.A.M., Koeleman Bobby P.C., Brilstra Eva H. 1 Jun 2018, In: Epilepsia. 59 , p. 1154-1165 12 p.

Epilepsy surgery for patients with genetic refractory epilepsy:a systematic review

Stevelink Remi, Sanders Maurits W.C.B., Tuinman Maarten P., Brilstra Eva H., Koeleman Bobby P.C., Jansen Floor E., Braun Kees P.J. 1 Apr 2018, In: Epileptic Disorders. 20 , p. 99-115 17 p.

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

de Lange Iris M., Koudijs Marco J., van 't Slot Ruben, Gunning Boudewijn, Sonsma Anja C.M., van Gemert Lisette J.J.M., Mulder Flip, Carbo Ellen C., van Kempen Marjan J.A., Verbeek Nienke E., Nijman Isaac J., Ernst Robert F., Savelberg Sanne M.C., Knoers Nine V.A.M., Brilstra Eva H., Koeleman Bobby P.C. 1 Mar 2018, In: Epilepsia. 59 , p. 690-703 14 p.

PRRT2-related phenotypes in patients with a 16p11.2 deletion

Vlaskamp Danique R.M., Callenbach Petra M.C., Rump Patrick, Giannini Lucia A.A., Brilstra Eva H., Dijkhuizen Trijnie, Vos Yvonne J., van der Kevie-Kersemaekers Anne Marie F., Knijnenburg Jeroen, de Leeuw Nicole, van Minkelen Rick, Ruivenkamp Claudia A.L., Stegmann Alexander P.A., Brouwer Oebele F., van Ravenswaaij-Arts Conny M.A. 1 Jan 2018, In: European Journal of Medical Genetics. 62 , p. 265-269 5 p.

Assessment of parental mosaicism in SCN1A -related epilepsy by single-molecule molecular inversion probes and next-generation sequencing

De Lange Iris M., Koudijs Marco J., Van 'T Slot Ruben, Sonsma Anja C.M., Mulder Flip, Carbo Ellen C., Van Kempen Marjan J.A., Nijman Isaac J., Ernst Robert F., Savelberg Sanne M.C., Knoers Nine V.A.M., Brilstra Eva H., Koeleman Bobby P.C. 1 Jan 2018, In: Journal of Medical Genetics. 56 , p. 75-80 6 p.

Behavior problems and health-related quality of life in Dravet syndrome

Sinoo Claudia, de Lange Iris Marie Louise, Westers Paul, Gunning Willem Boudewijn, Jongmans Marian Jacqueline, Brilstra Eva Henriëtte 1 Jan 2018, In: Epilepsy and Behavior. 90 , p. 217-227 11 p.

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

Loviglio Maria Nicla, Arbogast Thomas, Jønch Aia Elise, Collins Stephan C., Popadin Konstantin, Bonnet Camille S., Giannuzzi Giuliana, Maillard Anne M., Jacquemont Sébastien, Loviglio Maria Nicla, Jønch Aia Elise, Popadin Konstantin, Giannuzzi Giuliana, Maillard Anne M., Fagerberg Christina, Andersen Charlotte Brasch, Doco-Fenzy Martine, Delrue Marie-Ange, Faivre Laurence, Arveiler Benoit, Geneviève David, Schneider Anouck, Gerard Marion, Andrieux Joris, El Chehadeh Salima, Schaefer Elise, Depienne Christel, Van Haelst Mieke, Brilstra Eva H., Van Binsbergen Ellen, van Harssel Jeske, van der Veken Lars T., Gusella James F, Shen Yiping, Mitchell Elyse, Kini Usha, Hawkes Lara, Campbell Carolyn, Butschi Florence Niel, Addor Marie Claude, Beckmann Jacques S., Jacquemont Sébastien, Reymond Alexandre, Yalcin Binnaz, Katsanis Nicholas, Golzio Christelle, Reymond Alexandre, 5 Oct 2017, In: American Journal of Human Genetics. 101 , p. 564-577 14 p.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

de Kovel Carolien G F, Syrbe Steffen, Brilstra Eva H, Verbeek Nienke, Kerr Bronwyn, Dubbs Holly, Bayat Allan, Desai Sonal, Naidu Sakkubai, Srivastava Siddharth, Cagaylan Hande, Yis Uluc, Saunders Carol, Rook Martin, Plugge Susanna, Muhle Hiltrud, Afawi Zaid, Klein Karl-Martin, Jayaraman Vijayakumar, Rajagopalan Ramakrishnan, Goldberg Ethan, Marsh Eric, Kessler Sudha, Bergqvist Christina, Conlin Laura K, Krok Bryan L, Thiffault Isabelle, Pendziwiat Manuela, Helbig Ingo, Polster Tilman, Borggraefe Ingo, Lemke Johannes R, van den Boogaardt Marie-José, Møller Rikke S, Koeleman Bobby P C Oct 2017, In: JAMA Neurology. 74 , p. 1228-1236 9 p.

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