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dr. E.H. Brilstra

dr. E.H. Brilstra

Assistant Professor - medical

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Research Output (139)

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Kayumi Sayaka et al. 9 Sep 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 24 , p. 2351-2366 16 p.

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Miceli Francesco, Millevert Charissa, Soldovieri Maria Virginia, Mosca Ilaria, Ambrosino Paolo, Carotenuto Lidia, Schrader Dewi, Lee Hyun Kyung, Riviello James, Hong William, Risen Sarah, Emrick Lisa, Amin Hitha, Ville Dorothée, Edery Patrick, de Bellescize Julitta, Michaud Vincent, Van-Gils Julien, Goizet Cyril, Willemsen Marjolein H, Kleefstra Tjitske, Møller Rikke S, Bayat Allan, Devinsky Orrin, Sands Tristan, Korenke G Christoph, Kluger Gerhard, Mefford Heather C, Brilstra Eva, Lesca Gaetan, Milh Mathieu, Cooper Edward C, Taglialatela Maurizio, Weckhuysen Sarah Jul 2022, In: EBioMedicine. 81 , p. 1-15

Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review

Demaegd Koen, Brilstra Eva H, Hoogendijk Jessica E, de Bie Charlotte I, de Pagter Mirjam S, van Hecke Wim, Mühlebner Angelika, van Es Michael A, Milone Margherita, van Rheenen Wouter Jun 2022, In: Neuromuscular Disorders. 32 , p. 527-532 6 p.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Johannesen Katrine M et al. 23 May 2022, In: Brain : a journal of neurology. 145 , p. 2991-3009 19 p.

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

Brunklaus Andreas, Pérez-Palma Eduardo, Ghanty Ismael, Xinge Ji, Brilstra Eva, Ceulemans Berten, Chemaly Nicole, de Lange Iris, Depienne Christel, Guerrini Renzo, Mei Davide, Møller Rikke S, Nabbout Rima, Regan Brigid M, Schneider Amy L, Scheffer Ingrid E, Schoonjans An-Sofie, Symonds Joseph D, Weckhuysen Sarah, Kattan Michael W, Zuberi Sameer M, Lal Dennis 15 Mar 2022, In: Neurology. 98 , p. e1163-e1174

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

O'Donohue Marie-Françoise, Da Costa Lydie M, Lezzerini Marco, Unal Sule, Joret Clément, Bartels Marije, Brilstra Eva, Scheijde-Vermeulen Marijn, Wacheul Ludivine, De Keersmaecker Kim, Vereecke Stijn, Labarque Veerle, Saby Manon Juliette, LeFevre Sophie D, Platon Jessica, Montel-Lehry Nathalie, Laugero Nathalie, Lacazette Eric, van Gassen Koen, Houtkooper Riekelt H, Simsek-Kiper Pelin Ozlem, Leblanc Thierry M, Yarali Nese, Cetinkaya Arda, Akarsu Nurten A, Gleizes Pierre-Emmanuel, Lafontaine Denis L J, MacInnes Alyson W 25 Feb 2022, In: Blood. 139 , p. 3111-3126 16 p.

Genotype-phenotype correlations of KIF5A stalk domain variants

de Boer Eva M J, van Rheenen Wouter, Goedee H Stephan, Kamsteeg Erik-Jan, Brilstra Eva H, Veldink Jan H, van Den Berg Leonard H, van Es Michael A Nov 2021, In: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 22 , p. 561-570 10 p.

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Spinelli Egidio, Christensen Kyle R, Bryant Emily, Schneider Amy, Rakotomamonjy Jennifer, Muir Alison M, Giannelli Jessica, Littlejohn Rebecca O, Roeder Elizabeth R, Schmidt Berkley, Wilson William G, Marco Elysa J, Iwama Kazuhiro, Kumada Satoko, Pisano Tiziana, Barba Carmen, Vetro Annalisa, Brilstra Eva H, van Jaarsveld Richard H, Matsumoto Naomichi, Goldberg-Stern Hadassa, Carney Patrick W, Andrews P Ian, El Achkar Christelle M, Berkovic Sam, Rodan Lance H, McWalter Kirsty, Guerrini Renzo, Scheffer Ingrid E, Mefford Heather C, Mandelstam Simone, Laux Linda, Millichap John J, Guemez-Gamboa Alicia, Nairn Angus C, Carvill Gemma L, Aug 2021, In: Annals of Neurology. 90 , p. 274-284 11 p.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Cousin Margot A, Creighton Blake A, Breau Keith A, Spillmann Rebecca C, Torti Erin, Dontu Sruthi, Tripathi Swarnendu, Ajit Deepa, Edwards Reginald J, Afriyie Simone, Bay Julia C, Harper Kathryn M, Beltran Alvaro A, Munoz Lorena J, Falcon Rodriguez Liset, Stankewich Michael C, Person Richard E, Si Yue, Normand Elizabeth A, Blevins Amy, May Alison S, Bier Louise, Aggarwal Vimla, Mancini Grazia M S, van Slegtenhorst Marjon A, Cremer Kirsten, Becker Jessica, Engels Hartmut, Aretz Stefan, MacKenzie Jennifer J, Brilstra Eva, van Gassen Koen L I, van Jaarsveld Richard H, Oegema Renske, Parsons Gretchen M, Mark Paul, Helbig Ingo, McKeown Sarah E, Stratton Robert, Cogne Benjamin, Isidor Bertrand, Cacheiro Pilar, Smedley Damian, Firth Helen V, Bierhals Tatjana, Kloth Katja, Weiss Deike, Fairley Cecilia, Shieh Joseph T, Kritzer Amy, 1 Jul 2021, In: Nature Genetics. 53 , p. 1006-1021+ 16 p.

CSNK2B:A broad spectrum of neurodevelopmental disability and epilepsy severity

Ernst Michelle E, Baugh Evan H, Thomas Amanda, Bier Louise, Lippa Natalie, Stong Nicholas, Mulhern Maureen S, Kushary Sulagna, Akman Cigdem I, Heinzen Erin L, Yeh Raymond, Bi Weimin, Hanchard Neil A, Burrage Lindsay C, Leduc Magalie S, Chong Josephine S C, Bend Renee, Lyons Michael J, Lee Jennifer A, Suwannarat Pim, Brilstra Eva, Simon Marleen, Koopmans Marije, van Binsbergen Ellen, Groepper Daniel, Fleischer Julie, Nava Caroline, Keren Boris, Mignot Cyril, Mathieu Sophie, Mancini Grazia M S, Madan-Khetarpal Suneeta, Infante Elena M, Bluvstein Judith, Seeley Andrea, Bachman Kristine, Klee Eric W, Schultz-Rogers Laura E, Hasadsri Linda, Barnett Sarah, Ellingson Marissa S, Ferber Matthew J, Narayanan Vinodh, Ramsey Keri, Rauch Anita, Joset Pascal, Steindl Katharina, Sheehan Theodore, Poduri Annapurna, Vasquez Alejandra, Ruivenkamp Claudia, White Susan M, Pais Lynn, Monaghan Kristin G, Goldstein David B, Sands Tristan T, Aggarwal Vimla Jul 2021, In: Epilepsia. 62 , p. e103-e109

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