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dr. E.H. (Eva) Brilstra

dr. E.H. (Eva) Brilstra

Assistant Professor - medical

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Research Output (146)

GRIN2B encephalopathy:Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Platzer Konrad et al. 1 Jul 2017, In: Journal of Medical Genetics. 54 , p. 460-470 11 p.

Male patients affected by mosaic PCDH19 mutations:five new cases

de Lange I M, Rump P., Neuteboom Rinze F., Augustijn Paul B., Hodges K, Kistemaker A I, Brouwer Oebele F., Mancini Grazia M S, Newman H A, Vos Yvonne J., Helbig Katherine L, Peeters-Scholte C.M.P.C.D., Kriek M., Knoers N V, Lindhout D, Koeleman B P C, van Kempen M J A, Brilstra E H Jul 2017, In: Neurogenetics. 18 , p. 147-153 7 p.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff Markus et al. 1 May 2017, In: Brain. 140 , p. 1316-1336 21 p.

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

Marini Carla, Hardies Katia, Hardies Katia, Pisano Tiziana, May Patrick, May Patrick, Weckhuysen Sarah, Weckhuysen Sarah, Cellini Elena, Suls Arvid, Suls Arvid, Mei Davide, Balling Rudi, Jonghe Peter D., Jonghe Peter D., Jonghe Peter D., Helbig Ingo, Helbig Ingo, Garozzo Domenico, Guerrini Renzo, Guerrini Renzo, Afawi Zaid, Barišić Nina, Baulac Stéphanie, Brilstra Eva H., Caglayan Hande, Dana Craiu, Hageman Gerard, Helle Hjalgrim, Jähn Johanna, Klein Karl Martin, Leguern Eric, Lemke Johannes R., Møller Rikke S., Muhle Hiltrud, Rosenow Felix, Serratosa Jose, Schelhaas Jurgen H., Sterbova Katalin, von Spiczak Sarah, Szczepanik Elzbieta, Yis Uluc, Lerche Holger, Striano Pasquale, Weber Yvonne, Zara Federico Apr 2017, In: American Journal of Medical Genetics. Part A. 173 , p. 1119-1123 5 p.

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations

Weeke Lauren C, Brilstra Eva, Braun Kees P, Zonneveld-Huijssoon Evelien, Salomons Gajja S, Koeleman BPC, van Gassen Koen L, van Straaten Henrica L, Craiu Dana, de Vries Linda S Mar 2017, In: European Journal of Paediatric Neurology. 21 , p. 396-403 8 p.

Mutations in GABRB3:From febrile seizures to epileptic encephalopathies

Møller Rikke S, Wuttke Thomas V, Helbig Ingo, Marini Carla, Johannesen Katrine M, Brilstra Eva H, Vaher Ulvi, Borggraefe Ingo, Talvik Inga, Talvik Tiina, Kluger Gerhard, Francois Laurence L, Lesca Gaetan, de Bellescize Julitta, Blichfeldt Susanne, Chatron Nicolas, Holert Nils, Jacobs Julia, Swinkels Marielle, Betzler Cornelia, Syrbe Steffen, Nikanorova Marina, Myers Candace T, Larsen Line H G, Vejzovic Sabina, Pendziwiat Manuela, von Spiczak Sarah, Hopkins Sarah, Dubbs Holly, Mang Yuan, Mukhin Konstantin, Holthausen Hans, van Gassen Koen L, Dahl Hans A, Tommerup Niels, Mefford Heather C, Rubboli Guido, Guerrini Renzo, Lemke Johannes R, Lerche Holger, Muhle Hiltrud, Maljevic Snezana Jan 2017, In: Neurology. 88 , p. 483-492 10 p.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin Claire et al. Jan 2017, In: Nature Genetics. 49 , p. 36–45 10 p.

A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations

Vilan Ana, Mendes Ribeiro José, Striano Pasquale, Weckhuysen Sarah, Weeke Lauren C, Brilstra Eva, de Vries Linda S, Cilio Maria Roberta 2017, In: Neonatology. 112 , p. 387-393 7 p.

Photosensitivity in Dravet syndrome is under-recognized and related to prognosis

Verbeek Nienke, Kasteleijn-Nolst Trenite Dorothée, Wassenaar Merel, van Campen Jolien, Sonsma Anja, Gunning W Boudewijn, de Weerd Al, Knoers Nine, Spetgens Willy, Gutter Thea, Leijten Frans, Brilstra Eva 6 Dec 2016, In: Clinical Neurophysiology. 128 , p. 323-330 8 p.

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

de Kovel Carolien G F, Brilstra Eva H, van Kempen Marjan J A, Van't Slot Ruben, Nijman Isaäc J., Afawi Zaid, De Jonghe Peter, Djémié Tania, Guerrini Renzo, Hardies Katia, Helbig Ingo, Hendrickx Rik, Kanaan Moine, Kramer Uri, Lehesjoki Anna-Elina E, Lemke Johannes R, Marini Carla, Mei Davide, Møller Rikke S, Pendziwiat Manuela, Stamberger Hannah, Suls Arvid, Weckhuysen Sarah, Koeleman Bobby P C, , Verbeek Nienke Sep 2016, In: Molecular Genetics & Genomic Medicine. 4 , p. 568-580 13 p.

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