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Published in Epilepsia (Copenhagen) (01.06.2018)
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Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
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Published in Nature genetics (01.06.2014)
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Identification of candidate genes for developmental colour agnosia in a single unique family
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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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Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study
Verbeek, Nienke E, van der Maas, Nicoline A T, Jansen, Floor E, van Kempen, Marjan J A, Lindhout, Dick, Brilstra, Eva H
Published in PloS one (06.06.2013)
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Gene-network analysis identifies susceptibility genes related to glycobiology in autism
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Published in PloS one (28.05.2009)
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Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
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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
Published in European journal of human genetics : EJHG (01.01.2020)
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Modifier genes in SCN1A‐related epilepsy syndromes
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Published in Molecular genetics & genomic medicine (01.04.2020)
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Cardiac arrhythmias in Dravet syndrome: an observational multicenter study
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Published in Annals of clinical and translational neurology (01.04.2020)
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Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
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Published in American journal of human genetics (03.09.2020)
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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
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Published in Nature genetics (01.12.2014)
Published in Nature genetics (01.12.2014)
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N‐of‐1 trials in epilepsy: A systematic review and lessons paving the way forward
Defelippe, Victoria M., Brilstra, Eva H., Otte, Willem M., Cross, Helen J., O'Callaghan, Finbar, De Giorgis, Valentina, Poduri, Annapurna, Lerche, Holger, Sisodiya, Sanjay, Braun, Kees P. J., Jansen, Floor E., Perucca, Emilio
Published in Epilepsia (Copenhagen) (01.11.2024)
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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.
Published in Drug discovery today (01.10.2023)
Published in Drug discovery today (01.10.2023)
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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
Møller, Rikke S, Wuttke, Thomas V, Helbig, Ingo, Marini, Carla, Johannesen, Katrine M, Brilstra, Eva H, Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L, Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T, Larsen, Line H G, Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L, Dahl, Hans A, Tommerup, Niels, Mefford, Heather C, Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R, Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana
Published in Neurology (31.01.2017)
Published in Neurology (31.01.2017)
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