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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.

Genotype-phenotype correlations of KIF5A stalk domain variants

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Informa UK Limited, 2021

Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Mathijssen, Gini; van Valen, Evelien; de Jong, Pim A.; Golüke, Nienke M. S.; van Maren, Emiel A.; Snijders, Birgitta M. G.; Brilstra, Eva H.; Ruigrok, Ynte M.; Bakker, Susan; Goto, Renzo W.; Emmelot-Vonk, Marielle H.; Koek, Huiberdina L.

The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification

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MDPI AG, 2024

Published in: Journal of Clinical Medicine
Snijders, Birgitta MG; Mathijssen, Gini; Peters, Mike JL; Emmelot-Vonk, Marielle H; de Jong, Pim A; Bakker, Susan; Crommelin, Heleen A; Ruigrok, Ynte M; Brilstra, Eva H; Schepers, Vera PM; Spiering, Wilko; van Valen, Evelien; Koek, Huiberdina L

The effects of etidronate on brain calcifications in Fahr’s disease or syndrome: rationale and design of the randomised, placebo-controlled, double-blind CALCIFADE trial

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Springer Science and Business Media LLC, 2024

Published in: Orphanet Journal of Rare Diseases
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.

Cardiac arrhythmias in Dravet syndrome: an observational multicenter study

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Wiley, 2020

Published in: Annals of Clinical and Translational Neurology
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.

Modifier genes in SCN1A‐related epilepsy syndromes

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Wiley, 2020

Published in: Molecular Genetics & Genomic Medicine
Stelten, Bianca M.L.; Huidekoper, Hidde H.; van de Warrenburg, Bart P.C.; Brilstra, Eva H.; Hollak, Carla E.M.; Haak, Harm.R.; Kluijtmans, Leo A.J.; Wevers, Ron A.; Verrips, Aad

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

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Ovid Technologies (Wolters Kluwer Health), 2019

Published in: Neurology
de Lange, Iris M.; Gunning, Boudewijn; Sonsma, Anja C. M.; van Gemert, Lisette; van Kempen, Marjan; Verbeek, Nienke E.; Nicolai, Joost; Knoers, Nine V. A. M.; Koeleman, Bobby P. C.; Brilstra, Eva H.

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A‐related seizure phenotypes

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Wiley, 2018

Published in: Epilepsia
Verbeek, Nienke E.; Jansen, Floor E.; Vermeer-de Bondt, Patricia E.; de Kovel, Carolien G.; van Kempen, Marjan J.A.; Lindhout, Dick; Knoers, Nine V.A.M.; van der Maas, Nicoline A.T.; Brilstra, Eva H.

Etiologies for Seizures Around the Time of Vaccination

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American Academy of Pediatrics (AAP), 2014

Published in: Pediatrics
van der Crabben, Saskia N.; Harakalova, Magdalena; Brilstra, Eva H.; van Berkestijn, Frédérique M.C.; Hofstede, Floris C.; van Vught, Adrianus J.; Cuppen, Edwin; Kloosterman, Wigard; Ploos van Amstel, Hans Kristian; van Haaften, Gijs; van Haelst, Mieke M.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities

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Wiley, 2014

Published in: American Journal of Medical Genetics Part A
van Vliet, Rianne; Breedveld, Guido; de Rijk-van Andel, Johanneke; Brilstra, Eva; Verbeek, Nienke; Verschuuren-Bemelmans, Corien; Boon, Maartje; Samijn, Johnny; Diderich, Karin; van de Laar, Ingrid; Oostra, Ben; Bonifati, Vincenzo; Maat-Kievit, Anneke

PRRT2phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

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Ovid Technologies (Wolters Kluwer Health), 2012

Published in: Neurology
Gallagher, Declan; Pérez‐Palma, Eduardo; Bruenger, Tobias; Ghanty, Ismael; 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; Zuberi, Sameer M.; Lal, Dennis; Brunklaus, Andreas

Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies

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Wiley, 2024

Published in: Epilepsia
Lyu, Hang; Boßelmann, Christian M.; Johannesen, Katrine M.; Koko, Mahmoud; Ortigoza-Escobar, Juan Dario; Aguilera-Albesa, Sergio; Garcia-Navas Núñez, Deyanira; Linnankivi, Tarja; Gaily, Eija; van Ruiten, Henriette J.A.; Richardson, Ruth; Betzler, Cornelia; Horvath, Gabriella; Brilstra, Eva; Geerdink, Niels; Orsucci, Daniele; Tessa, Alessandra; Gardella, Elena; Fleszar, Zofia; Schöls, Ludger; Lerche, Holger; Møller, Rikke S.; Liu, Yuanyuan

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

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Elsevier BV, 2023

Published in: eBioMedicine
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.

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

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Wiley, 2023

Published in: Epilepsia Open
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.

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

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Public Library of Science (PLoS), 2023

Published in: PLOS ONE
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

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

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Ovid Technologies (Wolters Kluwer Health), 2022

Published in: Neurology
de Lange, Iris M; Koudijs, Marco J; van ‘t Slot, Ruben; Sonsma, Anja C M; Mulder, Flip; Carbo, Ellen C; van Kempen, Marjan J A; Nijman, Isaac J; Ernst, Robert F; Savelberg, Sanne M C; Knoers, Nine V A M; Brilstra, Eva H; Koeleman, Bobby P C

Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing

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BMJ, 2019

Published in: Journal of Medical Genetics
de Lange, Iris M.; Weuring, Wout; van ‘t Slot, Ruben; Gunning, Boudewijn; Sonsma, Anja C. M.; McCormack, Mark; de Kovel, Carolien; van Gemert, Lisette J. J. M.; Mulder, Flip; van Kempen, Marjan J. A.; Knoers, Nine V. A. M.; Brilstra, Eva H.; Koeleman, Bobby P. C.

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes

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Wiley, 2019

Published in: Molecular Genetics & Genomic Medicine
Schieving, Jolanda H; de Bot, Susanne T; van de Pol, Laura A; Wolf, Nicole I; Brilstra, Eva H; Frints, Suzanna G; van Gaalen, Judith; Misra-Isrie, Mala; Pennings, Maartje; Verschuuren-Bemelmans, Corien C; Kamsteeg, Erik-Jan; van de Warrenburg, Bart P; Willemsen, Michèl A

De novo SPAST mutations may cause a complex SPG4 phenotype

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Oxford University Press (OUP), 2019

Published in: Brain
de Lange, Iris M.; Koudijs, Marco J.; van 't Slot, Ruben; Gunning, Boudewijn; Sonsma, Anja C. M.; van Gemert, Lisette J. J. M.; Mulder, Flip; Carbo, Ellen C.; van Kempen, Marjan J. A.; Verbeek, Nienke E.; Nijman, Isaac J.; Ernst, Robert F.; Savelberg, Sanne M. C.; Knoers, Nine V. A. M.; Brilstra, Eva H.; Koeleman, Bobby P. C.

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

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Wiley, 2018

Published in: Epilepsia
Boerma, Ragna S.; Braun, Kees P.; van den Broek, Marcel P.H.; van Berkestijn, Frederique M.C.; Swinkels, Marielle E.; Hagebeuk, Eveline O.; Lindhout, Dick; van Kempen, Marjan; Boon, Maartje; Nicolai, Joost; de Kovel, Carolien G.; Brilstra, Eva H.; Koeleman, Bobby P.C.

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

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Elsevier BV, 2016

Published in: Neurotherapeutics

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