dr. E.H. Brilstra

dr. E.H. Brilstra

Assistant Professor - medical

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Research Output (146)

Uncertain futures and unsolicited findings in pediatric genomic sequencing:guidelines for return of results in cases of developmental delay

Cornelis Candice, Dondorp Wybo, Bolt Ineke, de Wert Guido, van Summeren Marieke, Brilstra Eva, Knoers Nine, Bredenoord Annelien L Dec 2023, In: BMC Medical Ethics. 24 10 p.

Identification of candidate genes for developmental colour agnosia in a single unique family

Nijboer Tanja C W, Hessel Ellen V S, van Haaften Gijs W, van Zandvoort Martine J, van der Spek Peter J, Troelstra Christine, de Kovel Carolien G F, Koeleman Bobby P C, van der Zwaag Bert, Brilstra Eva H, Burbach J Peter H Sep 2023, In: PLoS ONE. 18 17 p.

Gastrointestinal and eating problems in SCN1A-related seizure disorders

Minderhoud C A, Postma A, Jansen F E, Verhoeven J S, Schrijver J J, Goudswaard J, Andreae G, Otte W M, Braun K P J, Brilstra E H 29 Jul 2023, In: Epilepsy & Behavior. 146 8 p.

Toward responsible clinical n-of-1 strategies for rare diseases

Defelippe Victoria M, J M W van Thiel Ghislaine, Otte Willem M, Schutgens Roger E G, Stunnenberg Bas, Cross Helen J, O'Callaghan Finbar, De Giorgis Valentina, Jansen Floor E, Perucca Emilio, Brilstra Eva H, Braun Kees P J 24 Jun 2023, In: Drug Discovery Today. 28 9 p.

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

Teunissen Maria W A, Lewerissa Elly, van Hugte Eline J H, Wang Shan, Ockeloen Charlotte W, Koolen David A, Pfundt Rolph, Marcelis Carlo L M, Brilstra Eva, Howe Jennifer L, Scherer Stephen W, Le Guillou Xavier, Bilan Frédéric, Primiano Michelle, Roohi Jasmin, Piton Amelie, de Saint Martin Anne, Baer Sarah, Seiffert Simone, Platzer Konrad, Jamra Rami Abou, Syrbe Steffen, Doering Jan Henje, Lakhani Shenela, Nangia Srishti, Gilissen Christian, Vermeulen R Jeroen, Rouhl Rob P W, Brunner Han G, Willemsen Marjolein H, Kasri Nael Nadif 17 May 2023, In: Human molecular genetics. 32 , p. 2373-2385 13 p.

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

Buijsse Nathan, Jansen Floor E, Ockeloen Charlotte W, van Kempen Marjan J A, Zeidler Shimriet, Willemsen Marjolein H, Scarano Emanuela, Monticone Sonia, Zonneveld-Huijssoon Evelien, Low Karen J, Bayat Allan, Sisodiya Sanjay M, Samanta Debopam, Lesca Gaetan, de Jong Danielle, Giltay Jaqcues C, Verbeek Nienke E, Kleefstra Tjitske, Brilstra Eva H, Vlaskamp Danique R M 2023, In: Epilepsia Open. 8 , p. 1300-1313 14 p.

Challenging behavior in children and adolescents with Dravet syndrome:Exploring the lived experiences of parents

Postma Amber, Milota Megan, Jongmans Marian J, Brilstra Eva H, Zinkstok Janneke R 7 Dec 2022, In: Epilepsy & Behavior. 138 8 p.

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.

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