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1

Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

van der Zwaag, Bert, Franke, Lude, Poot, Martin, Hochstenbach, Ron, Spierenburg, Henk A., Vorstman, Jacob A. S., van Daalen, Emma, de Jonge, Maretha V., Verbeek, Nienke E., Brilstra, Eva H., van 't Sl

Journal:

Year:

2009

Language:

english

File:

PDF, 1.81 MB

english, 2009

2

Etiologies for Seizures Around the Time of Vaccination

Verbeek, N. E., Jansen, F. E., Vermeer-de Bondt, P. E., de Kovel, C. G., van Kempen, M. J. A., Lindhout, D., Knoers, N. V. A. M., van der Maas, N. A. T., Brilstra, E. H.

Journal:

Year:

2014

Language:

english

File:

PDF, 917 KB

english, 2014

3

Treatment of Intracranial Aneurysms by Embolization with Coils : A Systematic Review

Brilstra, E. H., Rinkel, G. J. E., van der Graaf, Y., van Rooij, W. J. J., Algra, A.

Journal:

Year:

1999

Language:

english

File:

PDF, 352 KB

english, 1999

4

Rebleeding, secondary ischemia, and timing of operation in patients with subarachnoid hemorrhage

Brilstra, E. H., Rinkel, G. J. E., Algra, A., van Gijn, J.

Journal:

Year:

2000

Language:

english

File:

PDF, 176 KB

english, 2000

5

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations

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

Year:

2016

Language:

english

File:

PDF, 719 KB

english, 2016

6

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., Dermaut, Bart

Journal:

Year:

2013

Language:

english

File:

PDF, 367 KB

english, 2013

7

Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene

Berghuis, B., Brilstra, E.H., Lindhout, D., Baulac, S., de Haan, G.J., van Kempen, M.

Journal:

Epilepsy & Behavior

Year:

2013

Language:

english

File:

PDF, 355 KB

english, 2013

8

The phenotypic spectrum of SCN8A encephalopathy

Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., Kirkpatrick, M., Goudie, D., Goldman, R., Jahn, J. A., Jepsen

Journal:

Year:

2015

Language:

english

File:

PDF, 886 KB

english, 2015

9

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

de Kovel, Carolien G. F., Syrbe, Steffen, Brilstra, Eva H., Verbeek, Nienke, Kerr, Bronwyn, Dubbs, Holly, Bayat, Allan, Desai, Sonal, Naidu, Sakkubai, Srivastava, Siddharth, Cagaylan, Hande, Yis, Uluc

Journal:

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

10

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteille

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 923 KB

english, 2014

11

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

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,

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.70 MB

english, 2014

12

Disentangling the Myriad Genomics of Complex Disorders, Specifically Focusing on Autism, Epilepsy, and Schizophrenia

Poot, M., van der Smagt, J.J., Brilstra, E.H., Bourgeron, T.

Journal:

Cytogenetic and Genome Research

Year:

2011

Language:

english

File:

PDF, 540 KB

english, 2011

13

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.

Journal:

Year:

2019

File:

PDF, 9.47 MB

2019

14

Quality of life after perimesencephalic haemorrhage

Brilstra, E. H, Hop, J. W, Rinkel, G. J E

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

1997

Language:

english

File:

PDF, 103 KB

english, 1997

15

TREATMENT OF RUPTURED INTRACRANIAL ANEURYSMS BY EMBOLIZATION WITH CONTROLLED DETACHABLE COILS

Brilstra, Eva H., Rinkel, Gabriel J. E.

Journal:

The Neurologist

Year:

2002

Language:

english

File:

PDF, 236 KB

english, 2002

16

Epilepsy surgery in patients with genetic refractory epilepsy: A systematic review

Stevelink, R., Sanders, Maurits W.C.B., Tuinman, Maarten, Koeleman, Bobby P.C., Brilstra, Eva H., Jansen, Floor E., Braun, Kees P.J.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 39 KB

english, 2017

17

Quality of Life, Anxiety, and Depression in Patients With an Untreated Intracranial Aneurysm or Arteriovenous Malformation

van der Schaaf, I. C., Brilstra, E. H., Rinkel, G. J.E., Bossuyt, P. M., van Gijn, J.

Journal:

Year:

2002

Language:

english

File:

PDF, 344 KB

english, 2002

18

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.

Journal:

Year:

2019

Language:

english

File:

PDF, 9.47 MB

english, 2019

19

Modifier genes in SCN1A ârelated epilepsy syndromes

de Lange, Iris M., Mulder, Flip, Slot, Ruben, Sonsma, Anja C. M., Kempen, Marjan J. A., Nijman, Isaac J., Ernst, Robert F., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 766 KB

2020

20

Epilepsie en het SCN1A-gen

N. Dekker, M. J. A. van Kempen, D. Lindhout, O. van Nieuwenhuizen, E. H. Brilstra

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2008

Language:

dutch

File:

PDF, 255 KB

dutch, 2008

21

Adults with a history of possible Dravet syndrome: An illustration of the importance of analysis of the SCN1A gene

Nienke E. Verbeek, Marjan van Kempen, W. Boudewijn Gunning, Willy O. Renier, Birgit Westland, Dick Lindhout, Eva H. Brilstra

Journal:

Year:

2011

Language:

english

File:

PDF, 191 KB

english, 2011

22

Mutations in GABRB3

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, Laure

Journal:

Year:

2017

Language:

english

File:

PDF, 567 KB

english, 2017

23

A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations

Vilan, Ana, Mendes Ribeiro, José, Striano, Pasquale, Weckhuysen, Sarah, Weeke, Lauren C., Brilstra, Eva, de Vries, Linda S., Cilio, Maria Roberta

Journal:

Year:

2017

Language:

english

File:

PDF, 729 KB

english, 2017

24

GRIN2A -related disorders: genotype and functional consequence predict phenotype

Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, He

Journal:

Year:

2018

Language:

english

File:

PDF, 1.20 MB

english, 2018

25

Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep

Kevelam, S. H. G., Jansen, F. E., Binsbergen, E. v., Braun, K. P. J., Verbeek, N. E., Lindhout, D., Poot, M., Brilstra, E. H.

Journal:

Journal of Child Neurology

Year:

2012

Language:

english

File:

PDF, 109 KB

english, 2012

26

The landscape of epilepsy-related GATOR1 variants

Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, T

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1.45 MB

english, 2018

27

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

de Kovel, Carolien G.F., Meisler, Miriam H., Brilstra, Eva H., van Berkestijn, Frederique M.C., Slot, Ruben van ‘t, van Lieshout, Stef, Nijman, Isaac J., O’Brien, Janelle E., Hammer, Michael F., Estac

Journal:

Epilepsy Research

Year:

2014

Language:

english

File:

PDF, 847 KB

english, 2014

28

KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16

Parrock, Sophie, Hussain, Sofia, Issler, Naomi, Differ, Ann-Marie, Lench, Nicholas, Guarino, Stefano, Oosterveld, Michiel J.S., Keijzer-Veen, Mandy, Brilstra, Eva, van Wieringen, Hester, Konijnenberg,

Journal:

Nephron Physiology

Year:

2013

Language:

english

File:

PDF, 220 KB

english, 2013

29

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 3.62 MB

2020

30

Transient amnesia after perimesencephalic haemorrhage: the role of enlarged temporal horns

Hop, J. W, Brilstra, E. H, Rinkel, G. J E

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

1998

Language:

english

File:

PDF, 134 KB

english, 1998

31

Correction: The landscape of epilepsy-related GATOR1 variants

Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, T

Journal:

Genetics in Medicine

Year:

2018

File:

PDF, 158 KB

2018

32

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H.,

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 2.02 MB

english, 2019

33

Complex cardiac defect with hypoplastic right ventricle in a fetus with valproate exposure

K. ten Berg, A. C. C. van Oppen, P. G. J. Nikkels, A. C. Gittenberger-de Groot, G. B. van der Voet, E. H. Brilstra, D. Lindhout

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

34

Bilateral vertebral artery balloon occlusion for giant vertebrobasilar aneurysms

Brilstra, E. H., Wijnalda, D., Tulleken, C. A. F., Sluzewski, M., van Rooij, W. J., Rinkel, G. J. E.

Journal:

Year:

2001

Language:

english

File:

PDF, 147 KB

english, 2001

35

Seizure precipitants in Dravet syndrome: What events and activities are specifically provocative compared with other epilepsies?

Verbeek, Nienke E., Wassenaar, Merel, van Campen, Jolien S., Sonsma, Anja, Gunning, Boudewijn, Knoers, Nine, Lindhout, Dick, Jansen, Floor E., Leijten, Frans, Brilstra, Eva H., Kasteleijn-Nolst Trenit

Journal:

Epilepsy & Behavior

Year:

2015

Language:

english

File:

PDF, 336 KB

english, 2015

36

Endovascular Treatment of Aneurysms in the Cavernous Sinus: A Systematic Review on Balloon Occlusion of the Parent Vessel and Embolization With Coils

van der Schaaf, I. C., Brilstra, E. H., Buskens, E., Rinkel, G. J.E.

Journal:

Year:

2002

Language:

english

File:

PDF, 302 KB

english, 2002

37

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

de Kovel, Carolien G.F., Brilstra, Eva H., van Kempen, Marjan J.A., van‘t Slot, Ruben, Nijman, Isaac J., Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, He

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 392 KB

english, 2016

38

Correction to: The landscape of epilepsy-related GATOR1 variants

Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, T

Journal:

Genetics in Medicine

Year:

2018

File:

PDF, 160 KB

2018

39

Excimer laser—assisted bypass in aneurysm treatment: short-term outcomes

Brilstra, Eva H., Rinkel, Gabriel J. E., Klijn, Catharina J. M., van der Zwan, Albert, Algra, Ale, Lo, Rob T. H., Tulleken, Cornelis A. F.

Journal:

Journal of Neurosurgery

Year:

2002

Language:

english

File:

PDF, 55 KB

english, 2002

40

1FC3.5 Copy number variations in patients with electrical status epilepticus in sleep

S. Kevelam, F. Jansen, E. van Binsbergen, K.P.J. Braun, N. Verbeek, D. Lindhout, M. Poot, E. Brilstra

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 36 KB

english, 2011

41

An update on serine deficiency disorders

Crabben, S. N., Verhoeven-Duif, N. M., Brilstra, E. H., Maldergem, L., Coskun, T., Rubio-Gozalbo, E., Berger, R., Koning, T. J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 161 KB

english, 2013

42

Effectiveness of neurosurgical clip application in patients with aneurysmal subarachnoid hemorrhage

Brilstra, Eva H., Algra, Ale, Rinkel, Gabriel J. E., Tulleken, Cornelis A. F., van Gijn, Jan

Journal:

Journal of Neurosurgery

Year:

2002

Language:

english

File:

PDF, 51 KB

english, 2002

43

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,

Journal:

Neurology: Genetics

Year:

2019

File:

PDF, 542 KB

2019

44

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

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

Journal:

Year:

2018

Language:

english

File:

PDF, 476 KB

english, 2018

45

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

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.

Journal:

Year:

2018

Language:

english

File:

PDF, 1023 KB

english, 2018

46

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, Rola

Journal:

Annals of Clinical and Translational Neurology

Year:

2020

Language:

english

File:

PDF, 659 KB

english, 2020

47

Searching for Subtle Features of Laxity of Connective Tissue in Patients with Ruptured Intracranial Aneurysms: A Pilot Study

Wolswijk, Rob H.A., Ruigrok, Ynte M., Rinkel, Gabriel J.E., Brilstra, Eva H., Engelbert, Raoul H.H.

Journal:

Cerebrovascular Diseases

Year:

2007

Language:

english

File:

PDF, 116 KB

english, 2007

48

Pitfalls in genetic testing: the story of missed SCN1A mutations

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

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 98 KB

english, 2016

49

PRRT2-related phenotypes in patients with a 16p11.2 deletion

Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, Eva H., Dijkhuizen, Trijnie, Vos, Yvonne J., van der Kevie-Kersemaekers, Anne-Marie F., Knijnenburg, Jero

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 666 KB

english, 2018

50

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

van Vliet, R., Breedveld, G., de Rijk-van Andel, J., Brilstra, E., Verbeek, N., Verschuuren-Bemelmans, C., Boon, M., Samijn, J., Diderich, K., van de Laar, I., Oostra, B., Bonifati, V., Maat-Kievit, A

Journal:

Year:

2012

Language:

english

File:

PDF, 599 KB

english, 2012

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