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dr. E.H. Brilstra

dr. E.H. Brilstra

Assistant Professor - medical

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Research Output (146)

NEXMIF encephalopathy:an X-linked disorder with male and female phenotypic patterns

Stamberger Hannah, Hammer Trine B, Gardella Elena, Vlaskamp Danique R M, Bertelsen Birgitte, Mandelstam Simone, de Lange Iris, Zhang Jing, Myers Candace T, Fenger Christina, Afawi Zaid, Almanza Fuerte Edith P, Andrade Danielle M, Balcik Yunus, Ben Zeev Bruria, Bennett Mark F, Berkovic Samuel F, Isidor Bertrand, Bouman Arjan, Brilstra Eva, Busk Øyvind L, Cairns Anita, Caumes Roseline, Chatron Nicolas, Dale Russell C, de Geus Christa, Edery Patrick, Gill Deepak, Granild-Jensen Jacob Bie, Gunderson Lauren, Gunning Boudewijn, Heimer Gali, Helle Johan R, Hildebrand Michael S, Hollingsworth Georgie, Kharytonov Volodymyr, Klee Eric W, Koeleman Bobby P C, Koolen David A, Korff Christian, Küry Sébastien, Lesca Gaetan, Lev Dorit, Leventer Richard J, Mackay Mark T, Macke Erica L, McEntagart Meriel, Mohammad Shekeeb S, Monin Pauline, Verbeek Nienke, Feb 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 363-373 11 p.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Carvill Gemma L, Helbig Katherine L, Myers Candace T, Scala Marcello, Huether Robert, Lewis Sara, Kruer Tyler N, Guida Brandon S, Bakhtiari Somayeh, Sebe Joy, Tang Sha, Stickney Heather, Oktay Sehribani Ulusoy, Bhandiwad Ashwin A, Ramsey Keri, Narayanan Vinodh, Feyma Timothy, Rohena Luis O, Accogli Andrea, Severino Mariasavina, Hollingsworth Georgina, Gill Deepak, Depienne Christel, Nava Caroline, Sadleir Lynette G, Caruso Paul A, Lin Angela E, Jansen Floor E, Koeleman Bobby, Brilstra Eva, Willemsen Marjolein H, Kleefstra Tjitske, Sa Joaquim, Mathieu Marie-Laure, Perrin Laurine, Lesca Gaetan, Striano Pasquale, Casari Giorgio, Scheffer Ingrid E, Raible David, Sattlegger Evelyn, Capra Valeria, Padilla-Lopez Sergio, Mefford Heather C, Kruer Michael C Jul 2020, In: Human mutation. 41 , p. 1263-1279 17 p.

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Singh Sakshi, Gupta Aditi, Zech Michael, Sigafoos Ashley N, Clark Karl J, Dincer Yasemin, Wagner Matias, Humberson Jennifer B, Green Sarah, van Gassen Koen, Brandt Tracy, Schnur Rhonda E, Millan Francisca, Si Yue, Mall Volker, Winkelmann Juliane, Gavrilova Ralitza H, Klee Eric W, Engleman Kendra, Safina Nicole P, Slaugh Rachel, Bryant Emily M, Tan Wen-Hann, Granadillo Jorge, Misra Sunita N, Schaefer G Bradley, Towner Shelley, Brilstra Eva H, Koeleman Bobby P C 5 May 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22 , p. 1413-1417 5 p.

Modifier genes in SCN1A-related epilepsy syndromes

de Lange Iris M, Mulder Flip, van 't Slot Ruben, Sonsma Anja C M, van Kempen Marjan J A, Nijman Isaac J, Ernst Robert F, Knoers Nine V A M, Brilstra Eva H, Koeleman Bobby P C 1 Apr 2020, In: Molecular Genetics & Genomic Medicine. 8

Cardiac arrhythmias in Dravet syndrome:an observational multicenter study

Shmuely Sharon, Surges Rainer, Helling Robert M, Gunning W Boudewijn, Brilstra Eva H, Verhoeven Judith S, Cross J Helen, Sisodiya Sanjay M, Tan Hanno L, Sander Josemir W, Thijs Roland D 1 Apr 2020, In: Annals of Clinical and Translational Neurology. 7 , p. 462-473 12 p.

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, 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, Wadley Alexandrea F, 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 653-660 8 p.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Johannesen Katrine M, Mitter Diana, Janowski Robert, Roth Christian, Toulouse Joseph, Poulat Anne-Lise, Ville Dorothee M, Chatron Nicolas, Brilstra Eva, Geleijns Karin, Born Alfred Peter, McLean Scott, Nugent Kimberly, Baynam Gareth, Poulton Cathryn, Dreyer Lauren, Gration Dylan, Schulz Solveig, Dieckmann Andrea, Helbig Katherine L, Merkenschlager Andreas, Jamra Rami, Finck Anja, Gardella Elena, Hjalgrim Helle, Mirzaa Ghayda, Brancati Francesco, Bierhals Tatjana, Denecke Jonas, Hempel Maja, Lemke Johannes R, Rubboli Guido, Muschke Petra, Guerrini Renzo, Vetro Annalisa, Niessing Dierk, Lesca Gaetan, Møller Rikke S Dec 2019, In: Neurology. Genetics. 5 10 p.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Konrad Enrico D.H., Nardini Niels, Caliebe Almuth, Nagel Inga, Young Dana, Horvath Gabriella, Santoro Stephanie L., Shuss Christine, Ziegler Alban, Bonneau Dominique, Kempers Marlies, Pfundt Rolph, Legius Eric, Bouman Arjan, Stuurman Kyra E., Õunap Katrin, Pajusalu Sander, Wojcik Monica H., Vasileiou Georgia, Le Guyader Gwenaël, Schnelle Hege M., Berland Siren, Zonneveld-Huijssoon Evelien, Kersten Simone, Gupta Aditi, Blackburn Patrick R., Ellingson Marissa S., Ferber Matthew J., Dhamija Radhika, Klee Eric W., McEntagart Meriel, Lichtenbelt Klaske D., Kenney Amy, Vergano Samantha A., Abou Jamra Rami, Platzer Konrad, Ella Pierpont Mary, Khattar Divya, Hopkin Robert J., Martin Richard J., Jongmans Marjolijn C.J., Chang Vivian Y., Martinez-Agosto Julian A., Kuismin Outi, Kurki Mitja I., Pietiläinen Olli, Palotie Aarno, Maarup Timothy J., Johnson Diana S., Brilstra Eva H., Dec 2019, In: Genetics in Medicine. 21 , p. 2723-2733 11 p.

Implications of genetic diagnostics in epilepsy surgery candidates:A single-center cohort study

Sanders Maurits W.C.B., Lemmens Cynthia M.C., Jansen Floor E., Brilstra Eva H., Koeleman Bobby P.C., Braun Kees P.J., Dec 2019, In: Epilepsia Open. 4 , p. 609-617 9 p.

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Pennings Maartje, Schouten Meyke I., van Gaalen Judith, Meijer Rowdy P.P., de Bot Susanne T., Kriek Marjolein, Saris Christiaan G.J., van den Berg Leonard H., van Es Michael A., Zuidgeest Dick M.H., Elting Mariet W., van de Kamp Jiddeke M., van Spaendonck-Zwarts Karin Y., Die-Smulders Christine de, Brilstra Eva H., Verschuuren Corien C., de Vries Bert B.A., Bruijn Jacques, Sofou Kalliopi, Duijkers Floor A., Jaeger B., Schieving Jolanda H., van de Warrenburg Bart P., Kamsteeg Erik Jan 5 Sep 2019, In: European Journal of Human Genetics. 28 , p. 40-49 10 p.

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