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dr. E.H. (Eva) Brilstra

dr. E.H. (Eva) Brilstra

Assistant Professor - medical

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Research Output (146)

Identification of Srp9 as a febrile seizure susceptibility gene

Hessel E.V.S., de Wit M., Wolterink-Donselaar I.G., Karst H., de Graaff E., van Lith H.A., de Bruijn M.E., de Sonnaville S., Verbeek N.E., Lindhout D., de Kovel C.G.F., Koeleman B.P.C., van Kempen M.J.A., Brilstra E.H., Cuppen E.P.J.G., Loos M., Spijker S.S., Kan A.A., Baars S.E., van Rijen P.C., Gosselaar P.H., Groot Koerkamp M.J.A., Holstege F.C.P., van Duijn C., Vergeer J., Moll H.A., Taubøll E., Heuser K., Ramakers G.M.J., Pasterkamp R.J., van Nieuwenhuizen O., Hoogenraad C.C., Kas M.J.H., de Graan P.N.E. 2014, In: Annals of Clinical and Translational Neurology. 1 , p. 239-250 12 p.

Unusual combination of epilepsy phenotypes and a SCNM1 mutation in a three - generational family: photosensitivity, persistent at high age, and talking induced myoclonic jaw- jerks

Kasteleijn-Nolst Trenité T.G.A., Schippers H., Perquin W., de Haan G., de Kovel C.G.F., Capovilla G., Jocic-Jakubi B., Covanis A., Brinciotti M., Baykan B., Parisi P., Brilstra E.H., Bader A.J., Koeleman B.P.C. 8 Jun 2013,

Prevalence of SCN1A-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study

Verbeek N.E., van der Maas N.A., Jansen F.E., van Kempen M.J.A., Lindhout D., Brilstra E.H. 2013, In: PLoS ONE [E]. 8 , p. e65758 1 p.

An update on serine deficiency disorders.

van der Crabben S.N., Verhoeven - Duif N.M., Brilstra E.H., van Maldergem L., Coskun T., Rubio-Gonzalbo M.E., Berger R.D., de Koning T.J. 2013, In: Journal of Inherited Metabolic Disease. 36 , p. 613-619 7 p.

KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16

Parrock S., Hussain S., Issler N., Differ A.-M., Lench N., Guarino S., Oosterveld M.J.S., Keijzer-Veen M.G., Brilstra E.H., van Wieringen H., Konijnenberg A.Y., Amin-Rasip S., Dumitriu S., Klootwijk E., Knoers V.V.A.M., Bockenhauer D., Kleta R, Zdebik A.A. 2013, In: Nephron. Clinical Practice. 123 , p. 7-14 8 p.

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

van Harssel J.J.T., Weckhuysen S., van Kempen M.J.A., Hardies K., Verbeek N.E., de Kovel C.G.F., Gunning W.B., van Daalen E., de Jonge Maretha, Jansen A.C., Vermeulen R.J., Arts W.F.M., Verhelst H., Fogarasi A., de Rijk-van Andel J.F., Keleman A., Lindhout D., de Jonghe P., Koeleman B.P.C., Suls A., Brilstra E.H. 2013, In: Neurogenetics. 14 , p. 23-34 12 p.

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.J.A. 2013, In: Epilepsy & Behavior. 28 , p. 41-46 6 p.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

Suls A., Jaehn J.A., Brilstra E.H., Koeleman B.P.C., et al [No Value], Helbig I. 2013, In: American Journal of Human Genetics. 93 , p. 967-975 9 p.

Dravet syndrome and other genetic and structural causes of post-vaccination epilepsy: a nation-wide ten-year cohort study

Verbeek N.E., Jansen F.E., van Kempen M.J.A., Lindhout D., Maas N.A.T., Brilstra E.H. 30 Sep 2012,

Identifying genes involved in epileptic encephalopathy by whole exome sequencing in families

Brilstra E.H., van ´t Slot R., van Lieshout S., Koeleman B.P.C., de Kovel C.G.F. 30 Sep 2012,

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