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Author/Creator Brilstra, Eva

1. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Issue 1 (December 2018)

Authors:
Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance; Nowak, Catherine; Douglas, Jessica; Swoboda, Kathryn; Steeves, Marcie; Sahai, Inderneel; Stumpel, Connie; Stegmann, Alexander; Wheeler, Patricia; Willing, Marcia; Fiala, Elise;...
Journal:
Nature communications
Issue:
Volume 9:Issue 1(2018)
Page Start:
1
Record Type:
Journal Article
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2. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021)

Authors:
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; L...
Journal:
Epilepsia
Issue:
Volume 62:issue 7(2021)
Page Start:
e103
Record Type:
Journal Article
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3. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy. Issue 7 (6th April 2020)

Authors:
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, Timoth...
Journal:
Human mutation
Issue:
Volume 41:Issue 7(2020)
Page Start:
1263
Record Type:
Journal Article
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4. Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. (15th March 2022)

Authors:
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...
Journal:
Neurology
Issue:
Volume 98:Number 11(2022)
Page Start:
e1163
Record Type:
Journal Article
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5. Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. (15th March 2022)

Authors:
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...
Journal:
Neurology
Issue:
Volume 98:Number 11(2022)
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Record Type:
Journal Article
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6. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Issue 7 (4th April 2017)

Authors:
Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter;...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 7(2017)
Page Start:
460
Record Type:
Journal Article
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7. Identification of Srp9 as a febrile seizure susceptibility gene. (12th March 2014)

Authors:
Hessel, Ellen V. S.; de, Marina; Wolterink‐Donselaar, Inge G.; Karst, Henk; de, Esther; van, Hein A.; de, Ewart; de, Sophietje; Verbeek, Nienke E.; Lindhout, Dick; de, Carolien G. F.; Koeleman, Bobby P. C.; van, Marjan; Brilstra, Eva; Cuppen, Edwin; Loos, Maarten; Spijker, Sabine S.; Kan, Anne A....
Journal:
Annals of clinical and translational neurology
Issue:
Volume 1:Number 4(2014:Apr.)
Page Start:
239
Record Type:
Journal Article
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8. Photosensitivity in Dravet syndrome is under-recognized and related to prognosis. Issue 2 (February 2017)

Authors:
Verbeek, Nienke; Kasteleijn-Nolst Trenité, Dorothée; Wassenaar, Merel; van Campen, Jolien; Sonsma, Anja; Gunning, W. Boudewijn; de Weerd, Al; Knoers, Nine; Spetgens, Willy; Gutter, Thea; Leijten, Frans; Brilstra, Eva
Journal:
Clinical neurophysiology
Issue:
Volume 128:Issue 2(2017:Feb.)
Page Start:
323
Record Type:
Journal Article
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9. Pitfalls in genetic testing: the story of missed SCN1A mutations. Issue 4 (14th April 2016)

Authors:
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;...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 4:Issue 4(2016)
Page Start:
457
Record Type:
Journal Article
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10. Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations. (March 2017)

Authors:
Weeke, Lauren C.; Brilstra, Eva; Braun, Kees P.; Zonneveld-Huijssoon, Evelien; Salomons, Gajja S.; Koeleman, Bobby P.; van Gassen, Koen L.; van Straaten, Henrica L.; Craiu, Dana; de Vries, Linda S.
Journal:
European journal of paediatric neurology
Issue:
Volume 21:Number 2(2017:Mar.)
Page Start:
396
Record Type:
Journal Article
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