Marjan van Kempen

Marjan van Kempen

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Marjan van Kempen

Marjan van Kempen

Publications by authors named "Marjan van Kempen"

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Modifier genes in SCN1A-related epilepsy syndromes.

Mol Genet Genomic Med 2020 Feb 7:e1103. Epub 2020 Feb 7.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.1103DOI Listing
February 2020

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

Outcomes and comorbidities of SCN1A-related seizure disorders.

Epilepsy Behav 2019 01 5;90:252-259. Epub 2018 Dec 5.

Department of Genetics, University Medical Center Utrecht, Utrecht University, the Netherlands.

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http://dx.doi.org/10.1016/j.yebeh.2018.09.041DOI Listing
January 2019

Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.

Hum Mutat 2018 12 13;39(12):1942-1956. Epub 2018 Sep 13.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1002/humu.23619DOI Listing
December 2018

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency.

Neurology 2016 07;87(1):e4-5

From the Departments of Neurology (J.N.) and Radiology (A.A.P.), Maastricht University Medical Center; and Department of Medical Genetics (M.J.A.v.K.), University Medical Center Utrecht, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000002805DOI Listing
July 2016

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

Neurology 2015 Aug 22;85(7):596-603. Epub 2015 Jul 22.

From the Department of Medical Genetics (N.E.V., A.C.M.S., E.I., M.v.K., C.G.F.d.K., B.P.C.K., N.V.K., D.L., E.H.B.) and Department of Child Neurology, Brain Center Rudolf Magnus (F.E.J., K.P.B.), University Medical Center Utrecht; Centre for Infectious Disease Control (N.A.T.v.d.M., P.E.V.-d.B., J.M.K.), National Institute for Public Health and Environment-RIVM, Bilthoven; Stichting Epilepsie Instellingen Nederland (E.H., W.B.G.), Zwolle; Stichting Epilepsie Instellingen Nederland (H.H.G., P.B.A.), Heemstede; Epilepsy Center Kempenhaeghe (A.d.L.), Heeze; Department of Child Neurology (R.F.N.), Erasmus Medical Centre, Rotterdam; Department of Child Neurology (J.H.S.), Radboud Medical Centre, Nijmegen; Department of Neurology (H.S.), Canisius-Wilhelmina Hospital, Nijmegen; Department of Child Neurology (R.J.V.), VU Medical Centre, Amsterdam; Department of Child Neurology (J.N.), Maastricht University Medical Centre; and Department of Neurology (O.F.B.), University of Groningen, University Medical Centre of Groningen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000001855DOI Listing
August 2015

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

Front Pediatr 2014 19;2:136. Epub 2014 Dec 19.

Department of Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center , Amsterdam , Netherlands.

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http://dx.doi.org/10.3389/fped.2014.00136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271583PMC
January 2015

Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.

J Gen Physiol 2013 Dec;142(6):641-53

Department of Medical Genetics, Division of Biomedical Genetics, and 2 Department of Medical Physiology, Division of Heart and Lungs, University Medical Center Utrecht, 3508 AB Utrecht, Netherlands.

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http://dx.doi.org/10.1085/jgp.201311042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3840920PMC
December 2013

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

Eur J Neurosci 2011 Oct 22;34(8):1268-75. Epub 2011 Aug 22.

Division of Biomedical Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1111/j.1460-9568.2011.07826.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195841PMC
October 2011

A retrospective population-based study on seizures related to childhood vaccination.

Epilepsia 2011 Aug 21;52(8):1506-12. Epub 2011 Jun 21.

Department of Neuropediatrics, Christian-Albrechts-University Kiel and University Medical Centre Schleswig-Holstein, Kiel, Germany.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03134.xDOI Listing
August 2011

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

Epilepsia 2011 Apr 3;52(4):e23-5. Epub 2011 Mar 3.

DBG-Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://doi.wiley.com/10.1111/j.1528-1167.2011.02982.x
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http://dx.doi.org/10.1111/j.1528-1167.2011.02982.xDOI Listing
April 2011

Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

Pediatr Int 2010 Apr 26;52(2):234-9. Epub 2009 Jun 26.

Department of Genetic Epidemiology, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://doi.wiley.com/10.1111/j.1442-200X.2009.02916.x
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http://dx.doi.org/10.1111/j.1442-200X.2009.02916.xDOI Listing
April 2010

Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.

Neurosci Lett 2009 Oct 25;462(1):24-9. Epub 2009 Jun 25.

Complex Genetics Section, DBG-Department of Medical Genetics, University Medical Center Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.neulet.2009.06.064DOI Listing
October 2009

Discontinuous conduction in mouse bundle branches is caused by bundle-branch architecture.

Circulation 2005 Oct 3;112(15):2235-44. Epub 2005 Oct 3.

Department of Medical Physiology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.105.547893DOI Listing
October 2005

Expression of the electrophysiological system during murine embryonic stem cell cardiac differentiation.

Cell Physiol Biochem 2003 ;13(5):263-70

Department of Medical Physiology, University Medical Center Utrecht, The Netherlands.

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http://dx.doi.org/10.1159/000074541DOI Listing
July 2004

P19 embryonal carcinoma cells: a suitable model system for cardiac electrophysiological differentiation at the molecular and functional level.

Cardiovasc Res 2003 May;58(2):410-22

Department of Medical Physiology, University Medical Center Utrecht, P.O. Box 85060, 3508 AB, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/s0008-6363(03)00247-5DOI Listing
May 2003