Publications by authors named "Nienke E Verbeek"

36Publications

A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.

Parkinsonism Relat Disord 2020 Sep 12;80:98-101. Epub 2020 Sep 12.

Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.09.016DOI Listing
September 2020

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

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: 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

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

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

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

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

Further delineation of the GDF6 related multiple synostoses syndrome.

Am J Med Genet A 2018 01 12;176(1):225-229. Epub 2017 Nov 12.

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

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http://dx.doi.org/10.1002/ajmg.a.38503DOI Listing
January 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

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

Seizure precipitants in Dravet syndrome: What events and activities are specifically provocative compared with other epilepsies?

Epilepsy Behav 2015 Jun 26;47:39-44. Epub 2015 May 26.

Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2015.05.008DOI Listing
June 2015

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Hum Genet 2015 Feb 21;134(2):181-90. Epub 2014 Nov 21.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10 Ave, BRB 610, M-860, Miami, FL, 33136, USA,

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http://dx.doi.org/10.1007/s00439-014-1509-2DOI Listing
February 2015

Copy number variations in patients with electrical status epilepticus in sleep.

J Child Neurol 2012 Feb 27;27(2):178-82. Epub 2011 Sep 27.

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

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http://dx.doi.org/10.1177/0883073811416006DOI Listing
February 2012

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

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

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