Marjan J Kempen

Marjan J A van Kempen

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Marjan J Kempen

Marjan J A van Kempen

Publications by authors named "Marjan J A van Kempen"

18Publications

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1PubMed Central Citations

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

Hum Mutat 2018 Dec 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

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

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

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

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