Brilstra, E. H. : rechercher sur Z-Library

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1

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:

Année:

2014

Langue:

english

Fichier:

PDF, 917 KB

english, 2014

2

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:

Année:

1999

Langue:

english

Fichier:

PDF, 352 KB

english, 1999

3

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:

Année:

2009

Langue:

english

Fichier:

PDF, 1.81 MB

english, 2009

4

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

Année:

2005

Langue:

english

Fichier:

PDF, 124 KB

english, 2005

5

Epilepsie en het SCN1A-gen

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

Journal:

Tijdschrift voor Kindergeneeskunde

Année:

2008

Langue:

dutch

Fichier:

PDF, 255 KB

dutch, 2008

6

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:

Année:

2011

Langue:

english

Fichier:

PDF, 191 KB

english, 2011

7

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:

Année:

2001

Langue:

english

Fichier:

PDF, 147 KB

english, 2001

8

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

Année:

2011

Langue:

english

Fichier:

PDF, 36 KB

english, 2011

9

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

Année:

2011

Langue:

english

Fichier:

PDF, 540 KB

english, 2011

10

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

Année:

2013

Langue:

english

Fichier:

PDF, 161 KB

english, 2013

11

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

Année:

2014

Langue:

english

Fichier:

PDF, 923 KB

english, 2014

12

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

Année:

2013

Langue:

english

Fichier:

PDF, 355 KB

english, 2013

13

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

Année:

2014

Langue:

english

Fichier:

PDF, 847 KB

english, 2014

14

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

Année:

2014

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2014

15

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:

Année:

2015

Langue:

english

Fichier:

PDF, 886 KB

english, 2015

16

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

Année:

2012

Langue:

english

Fichier:

PDF, 109 KB

english, 2012

17

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

Année:

1998

Langue:

english

Fichier:

PDF, 134 KB

english, 1998

18

Quality of life after perimesencephalic haemorrhage

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

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Année:

1997

Langue:

english

Fichier:

PDF, 103 KB

english, 1997

19

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

Année:

2007

Langue:

english

Fichier:

PDF, 116 KB

english, 2007

20

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

Année:

2013

Langue:

english

Fichier:

PDF, 220 KB

english, 2013

21

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:

Année:

2012

Langue:

english

Fichier:

PDF, 599 KB

english, 2012

22

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

Année:

2015

Langue:

english

Fichier:

PDF, 336 KB

english, 2015

23

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:

Année:

2000

Langue:

english

Fichier:

PDF, 176 KB

english, 2000

24

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Hardies, Katia, de Kovel, Carolien G. F., Weckhuysen, Sarah, Asselbergh, Bob, Geuens, Thomas, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Da

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 915 KB

english, 2015

25

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

Année:

2002

Langue:

english

Fichier:

PDF, 51 KB

english, 2002

26

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

Année:

2002

Langue:

english

Fichier:

PDF, 55 KB

english, 2002

27

Quality of Life after Treatment of Unruptured Intracranial Aneurysms by Neurosurgical Clipping or by Embolisation with Coils

Brilstra, Eva H., Rinkel, Gabriel J.E., van der Graaf, Yolanda, Sluzewski, Menno, Groen, Rob J., Lo, Rob T.H., Tulleken, Cornelis A.F.

Journal:

Cerebrovascular Diseases

Année:

2004

Langue:

english

Fichier:

PDF, 161 KB

english, 2004

28

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:

Année:

2002

Langue:

english

Fichier:

PDF, 344 KB

english, 2002

29

TREATMENT OF RUPTURED INTRACRANIAL ANEURYSMS BY EMBOLIZATION WITH CONTROLLED DETACHABLE COILS

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

Journal:

The Neurologist

Année:

2002

Langue:

english

Fichier:

PDF, 236 KB

english, 2002

30

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

Année:

2016

Langue:

english

Fichier:

PDF, 98 KB

english, 2016

31

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

Année:

2016

Langue:

english

Fichier:

PDF, 392 KB

english, 2016

32

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

Année:

2016

Langue:

english

Fichier:

PDF, 719 KB

english, 2016

33

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:

Année:

2017

Langue:

english

Fichier:

PDF, 567 KB

english, 2017

34

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:

Année:

2002

Langue:

english

Fichier:

PDF, 302 KB

english, 2002

35

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

Année:

2017

Langue:

english

Fichier:

PDF, 39 KB

english, 2017

36

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:

Année:

2017

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2017

37

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:

Année:

2017

Langue:

english

Fichier:

PDF, 729 KB

english, 2017

38

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1023 KB

english, 2018

39

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:

Année:

2013

Langue:

english

Fichier:

PDF, 367 KB

english, 2013

40

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

Année:

2018

Langue:

english

Fichier:

PDF, 1.45 MB

english, 2018

41

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

Année:

2018

Langue:

english

Fichier:

PDF, 666 KB

english, 2018

42

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

Année:

2018

Fichier:

PDF, 160 KB

2018

43

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

Année:

2018

Fichier:

PDF, 158 KB

2018

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:

Année:

2018

Langue:

english

Fichier:

PDF, 476 KB

english, 2018

45

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2018

46

Behavior problems and health-related quality of life in Dravet syndrome

Sinoo, Claudia, de Lange, Iris Marie-Louise, Westers, Paul, Gunning, Willem Boudewijn, Jongmans, Marian Jacqueline, Brilstra, Eva Henriëtte

Journal:

Epilepsy & Behavior

Année:

2018

Langue:

english

Fichier:

PDF, 731 KB

english, 2018

47

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

Année:

2019

Langue:

english

Fichier:

PDF, 2.02 MB

english, 2019

48

De novo SPAST mutations may cause a complex SPG4 phenotype

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-lsrie, Mala, Pennings, Maartje, Verschuuren-Bemelmans, Corie

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 268 KB

english, 2019

49

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:

Année:

2019

Langue:

english

Fichier:

PDF, 9.47 MB

english, 2019

50

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:

Année:

2019

Fichier:

PDF, 9.47 MB

2019