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dr. E.H. Brilstra

dr. E.H. Brilstra

Assistant Professor - medical

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Research Output (136)

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.

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

Parents, their children, whole exome sequencing and unsolicited findings:growing towards the child’s future autonomy

Tibben Aad, Dondorp Wybo, Cornelis Candice, Knoers Nine, Brilstra Eva, van Summeren Marieke, Bolt Ineke Jun 2021, In: European Journal of Human Genetics. 29 , p. 911-919 9 p.

Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy

Vlaskamp Danique R M, Rump Patrick, Callenbach Petra M C, Brilstra Eva H, Velthuizen Mary E, Brouwer Oebele F, Ranchor Adelita V, van Ravenswaaij-Arts Conny M A May 2021, In: European Journal of Paediatric Neurology. 32 , p. 128-135 8 p.

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner Chiara, Sticht Heinrich, Zacher Pia, Popp Bernt, Babcock Holly E, Bakker Dewi P, Barwick Katy, Bonfert Michaela V, Bönnemann Carsten G, Brilstra Eva H, Chung Wendy K, Clarke Angus J, Devine Patrick, Donkervoort Sandra, Fraser Jamie L, Friedman Jennifer, Gates Alyssa, Ghoumid Jamal, Hobson Emma, Horvath Gabriella, Keller-Ramey Jennifer, Keren Boris, Kurian Manju A, Lee Virgina, Leppig Kathleen A, Lundgren Johan, McDonald Marie T, McLaughlin Heather M, McTague Amy, Mefford Heather C, Mignot Cyril, Mikati Mohamad A, Nava Caroline, Raymond F Lucy, Sampson Julian R, Sanchis-Juan Alba, Shashi Vandana, Shieh Joseph T C, Shinawi Marwan, Slavotinek Anne, Stödberg Tommy, Stong Nicholas, Sullivan Jennifer A, Taylor Ashley C, Toler Tomi L, van den Boogaard Marie-José, van der Crabben Saskia N, van Gassen Koen L I, van Jaarsveld Richard H, Van Ziffle Jessica, Apr 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 796 1 p.

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