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dr. E.H. (Eva) Brilstra

dr. E.H. (Eva) Brilstra

Assistant Professor - medical

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Research Output (146)

Pitfalls in genetic testing:the story of missed SCN1A mutations

Djémié Tania, Weckhuysen Sarah, von Spiczak Sarah, Carvill Gemma L, Jaehn Johanna, Anttonen Anna-Kaisa, Brilstra Eva, Caglayan Hande S, de Kovel Carolien G, Depienne Christel, Gaily Eija, Gennaro Elena, Giraldez Beatriz G, Gormley Padhraig, Guerrero-López Rosa, Guerrini Renzo, Hämäläinen Eija, Hartmann Corinna, Hernandez-Hernandez Laura, Hjalgrim Helle, Koeleman Bobby P C, Leguern Eric, Lehesjoki Anna-Elina, Lemke Johannes R, Leu Costin, Marini Carla, McMahon Jacinta M, Mei Davide, Møller Rikke S, Muhle Hiltrud, Myers Candace T, Nava Caroline, Serratosa Jose M, Sisodiya Sanjay M, Stephani Ulrich, Striano Pasquale, van Kempen Marjan J A, Verbeek Nienke E, Usluer Sunay, Zara Federico, Palotie Aarno, Mefford Heather C, Scheffer Ingrid E, De Jonghe Peter, Helbig Ingo, Suls Arvid, Jul 2016, In: Molecular Genetics & Genomic Medicine. 4 , p. 457-464 8 p.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

de Lange Iris M, Helbig Katherine L, Weckhuysen Sarah, Møller Rikke S, Velinov Milen, Dolzhanskaya Natalia, Marsh Eric, Helbig Ingo, Devinsky Orrin, Tang Sha, Mefford Heather C, Myers Candace T, van Paesschen Wim, Striano Pasquale, van Gassen Koen, van Kempen Marjan, de Kovel Carolien G F, Piard Juliette, Minassian Berge A, Nezarati Marjan M, Pessoa André, Jacquette Aurelia, Maher Bridget, Balestrini Simona, Sisodiya Sanjay, Warde Marie Therese Abi, De St Martin Anne, Chelly Jamel, van 't Slot Ruben, Van Maldergem Lionel, Brilstra Eva H, Koeleman Bobby P C, 29 Jun 2016, In: Journal of Medical Genetics. 53 , p. 850-858

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy:A Molecular Neuropharmacological Approach

Boerma Ragna S., Braun Kees P., van den Broek Maarten P H, van Berkestijn Frederique M C, Swinkels Marielle E. , Hagebeuk Eveline O., Lindhout Dick, van Kempen Marjan, Boon Maartje, Nicolai Joost, de Kovel Carolien G., Brilstra Eva H., Koeleman Bobby P C 1 Jan 2016, In: Neurotherapeutics . 13 , p. 192-197 6 p.

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

Boerma Ragna S., Braun Kees P., van den Broek Marcel P H , van Berkestijn Frederique M C , Swinkels Marielle E., Hagebeuk Eveline O., Lindhout Dick, van Kempen Marjan, Boon Maartje, Nicolai Joost, de Kovel Carolien G., Brilstra Eva H., Koeleman Bobby P C 1 Jan 2016, In: Neurotherapeutics . 13 , p. 238 1 p.

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Hardies Katia, de Kovel Carolien G F, Weckhuysen Sarah, Asselbergh Bob, Geuens Thomas, Deconinck Tine, Azmi Abdelkrim, May Patrick, Brilstra Eva, Becker Felicitas, Barisic Nina, Craiu Dana, Braun Kees P J, Lal Dennis, Thiele Holger, Schubert Julian, Weber Yvonne, van 't Slot Ruben, Nürnberg Peter, Balling Rudi, Timmerman Vincent, Lerche Holger, Maudsley Stuart, Helbig Ingo, Suls Arvid, Koeleman Bobby P C, De Jonghe Peter, 17 Sep 2015, In: Brain. 138 , p. 3238-3250

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Tanaka Akemi J., Cho Megan T., Millan Francisca, Juusola Jane, Retterer Kyle, Joshi Charuta, Niyazov Dmitriy, Garnica Adolfo, Gratz Edward, Deardorff Matthew, Wilkins Alisha, Ortiz-Gonzalez Xilma, Mathews Katherine, Panzer Karin, Brilstra Eva, Van Gassen Koen L I, Volker-Touw Catharina M L, van Binsbergen Ellen, Sobreira Nara, Hamosh Ada, McKnight Dianalee, Monaghan Kristin G., Chung Wendy K. 3 Sep 2015, In: American Journal of Human Genetics. 97 , p. 457-464 8 p.

Effect of vaccinations on seizure risk and disease course in Dravet syndrome

Verbeek Nienke E., van der Maas Nicoline A. T., Sonsma Anja C. M., Ippel Elly, Bondt Patricia E. Vermeer-de, Hagebeuk Eveline, Jansen Floor E. , Geesink Huibert H., Braun Kees P., de Louw Anton, Augustijn Paul B., Neuteboom Rinze F., Schieving Jolanda H., Stroink Hans, Vermeulen R. Jeroen, Nicolai Joost, Brouwer Oebele F., Van Kempen Marjan, de Kovel Carolien G F , Kemmeren Jeanet M., Koeleman Bobby P. C. , Knoers Nine V., Lindhout Dick, Gunning W. Boudewijn, Brilstra Eva H. 18 Aug 2015, In: Neurology. 85 , p. 596-603 8 p.

Clinical and genetic analysis of a family with two rare reflex epilepsies

Kasteleijn-Nolst Trenite Dorothee G. A. , Volkers Linda, Strengman Eric , Schippers Herman M., Perquin Willem, de Haan Gerrit-Jan, Gkountidi Anastasia O., van't Slot Ruben, de Graaf Stan F., Jocic-Jakubi Bosanka, Capovilla Giuseppe, Covanis Athanasios, Parisi Pasquale, Veggiotti Pierangelo, Brinciotti Mario, Incorpora Gemma, Piccioli Marta, Cantonetti Laura, Berkovic Samuel F., Scheffer Ingrid E., Brilstra Eva H., Sonsma Anja C. M., Bader Adri J., de Kovel Carolien G F , Koeleman BPC Jul 2015, In: Seizure : the Journal of the British Epilepsy Association. 29 , p. 90-96 7 p.

Seizure precipitants in Dravet syndrome:What events and activities are specifically provocative compared with other epilepsies?

Verbeek Nienke E., Wassenaar Merel, van Campen Jolien S., Sonsma Anja, Gunning Boudewijn, Knoers Nine, Lindhout Dick, Jansen Floor E., Leijten Frans, Brilstra Eva H., Kasteleijn-Nolst Trenité Dorothée 1 Jun 2015, In: Epilepsy & Behavior. 47 , p. 39-44 6 p.

The phenotypic spectrum of SCN8A encephalopathy

Larsen Jan, Carvill Gemma L., Gardella Elena, Kluger Gerhard, Schmiedel Gudrun, Barisic Nina, Depienne Christel, Brilstra Eva, Mang Yuan, Nielsen Jens Erik Klint, Kirkpatrick Martin, Goudie David, Goldman Rebecca, Jähn Johanna A., Jepsen Birgit, Gill Deepak, Döcker Miriam, Biskup Saskia, McMahon Jacinta M., Koeleman Bobby, Harris Mandy, Braun Kees, De Kovel Carolien G F, Marini Carla, Specchio Nicola, Djémié Tania, Weckhuysen Sarah, Tommerup Niels, Troncoso Monica, Troncoso Ledia, Bevot Andrea, Wolff Markus, Hjalgrim Helle, Guerrini Renzo, Scheffer Ingrid E., Mefford Heather C., Møller Rikke S. 1 Jan 2015, In: Neurology. 84 , p. 480-489 10 p.

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