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dr. E.H. (Eva) Brilstra

dr. E.H. (Eva) Brilstra

Assistant Professor - medical

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Research Output (146)

Whole exome sequencing to identify genes involved in epileptic encephalopathy

de Kovel C.G.F., Brilstra E.H., van ´t Slot R., van Lieshout S., Koeleman B.P.C. 23 Jun 2012,

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

van Vliet R., Breedveld G., de Rijk-van Andel J.F., Brilstra E.H., Verbeek N.E., Verschuuren-Bemelmans C., Boon M., Samijn J., van de Laar I, Oostra B., Bonifati V., Maat-Kievit A. 2012, In: Neurology. 79 , p. 777-784 8 p.

Copy number variations in patients with electrical status epilepticus in sleep

Kevelam S., Jansen F.E., van Binsbergen E., Braun K.P.J., Verbeek N.E., Lindhout D., Poot M., Brilstra E.H. 2012, In: Journal of child neurology. 27 , p. 178-182 5 p.

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

van Daalen E., Kemner C., Verbeek N.E., van der Zwaag A., Dijkhuizen T., Rump P., Houben R., van ´t Slot R., de Jonge M.V., Staal W.G., Beemer F.A., Vorstman J.A.S., Burbach J.P.H., van Amstel H.K., Hochstenbach R., Brilstra E.H., Poot M. Nov 2011, In: Neurogenetics. 12 , p. 315-323 9 p.

Prevalence of Dravet syndrome among children reported with a convulsion after vaccination, in a nationwide ten-year cohort

Verbeek N.E., Vermeer-de Bondt P.E., van Kempen M.J.A., Jansen F.E., Lindhout D., Maas N.A.T., Brilstra E.H. 7 Jun 2011,

A diagnosis of X-linked Opitz G/BBB syndrome by array-CGH in a boy and a girl

Maiburg M.C., van Binsbergen E., Brilstra E.H., Terhal P.A. 28 May 2011,

Dravet syndrome caused by SCN1A mutations, and other genetic causes of epilepsy, with onset after vaccination in infancy

Verbeek N.E., van Kempen M.J.A., Jansen F.E., Lindhout D., Maas N.A.T., Brilstra E.H. 28 May 2011,

Dravet syndrome caused by SCN1A mutations, and other genetic causes of epilepsy, with onset after vaccination in infancy

Verbeek N.E., van Kempen M.J.A., Jansen F.E., Lindhout D., Maas N.A.T., Brilstra E.H. 31 Mar 2011,

Highly multiplexed barcoded enrichment of up to 96 samples for next-generation sequencing

Harakalova M., Nijman I.J., van Lieshout S., Duran K.J., van Roosmalen M.J., Renkens I.J., Hrdlickova B., Mokry M., Houwen R.H.J., van Hasselt P.M., de Koning T.J., van den Boogaard M.J.H., Brilstra E.H., Koeleman B.P.C., Kroes H.Y., van Haelst M.M., Ploos van Amstel J.K., Kloosterman W.P., Cuppen E.P.J.G. 28 Mar 2011,

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

Verbeek N.E., van Kempen M.J.A., Gunning W.B., Renier W.O., Westland B.E., Lindhout D., Brilstra E.H. 2011, In: Epilepsia. 52 , p. 23-25 3 p.

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