Publications by authors named "Levinus Bok"

37Publications

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

Authors:
Curtis R Coughlin Laura A Tseng Jose E Abdenur Catherine Ashmore François Boemer Levinus A Bok Monica Boyer Daniela Buhas Peter T Clayton Anibh Das Hanka Dekker Athanasios Evangeliou François Feillet Emma J Footitt Sidney M Gospe Hans Hartmann Majdi Kara Erle Kristensen Joy Lee Rina Lilje Nicola Longo Roelineke J Lunsing Philippa Mills Maria T Papadopoulou Phillip L Pearl Flavia Piazzon Barbara Plecko Arushi G Saini Saikat Santra Damayanti R Sjarif Sylvia Stockler-Ipsiroglu Pasquale Striano Johan L K Van Hove Nanda M Verhoeven-Duif Frits A Wijburg Sameer M Zuberi Clara D M van Karnebeek

J Inherit Metab Dis 2020 Nov 16. Epub 2020 Nov 16.

Department of Pediatrics Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.

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November 2020

Providing person-centered care for patients with complex healthcare needs: A qualitative study.

Authors:
Vincent J T Peters Bert R Meijboom Jan Erik H Bunt Levinus A Bok Marianne W van Steenbergen J Peter de Winter Esther de Vries

PLoS One 2020 16;15(11):e0242418. Epub 2020 Nov 16.

Department of Tranzo, Tilburg School of Social and Behavioral Sciences, Tilburg University, Tilburg, Noord-Brabant, The Netherlands.

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January 2021

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

Authors:
Lena-Luise Becker Hormos Salimi Dafsari Jens Schallner Dalia Abdin Michael Seifert Florence Petit Thomas Smol Levinus Bok Lance Rodan Ingrid Krapels Stephanie Spranger Bernhard Weschke Katherine Johnson Volker Straub Angela M Kaindl Nataliya Di Donato Maja von der Hagen Sebahattin Cirak

J Hum Genet 2020 Nov 12;65(11):1003-1017. Epub 2020 Aug 12.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, Center for Molecular Medicine Cologne (CMMC), Center for Rare Diseases, University of Cologne, Cologne, Germany.

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November 2020

Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.

Authors:
Annemarie C S Knijnenburg Joost Nicolai Levinus A Bok Akin Bay Alexander P A Stegmann Margje Sinnema Maaike Vreeburg

Neurol Genet 2020 Jun 1;6(3):e418. Epub 2020 Apr 1.

Department of Neurology (A.C.S.K., J.N.), Maastricht University Medical Center, Maastricht; Department of Pediatrics (L.A.B.), Màxima Medical Center, Veldhoven; and Department of Clinical Genetics (A.B., A.P.A.S., M.S., M.V.), Maastricht University Medical Center, Maastricht, the Netherlands.

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June 2020

Developmental dysplasia of the hip in children with Down syndrome: comparison of clinical and radiological examinations in a local cohort.

Authors:
Anouk F M van Gijzen Elsbeth D M Rouers Florens Q M P van Douveren Jeanne Dieleman Johannes G E Hendriks Feico J J Halbertsma Levinus A Bok

Eur J Pediatr 2019 Apr 1;178(4):559-564. Epub 2019 Feb 1.

Department of Pediatrics and Neonatology, Máxima Medical Center, PO Box no. 7777, 5500, MB, Veldhoven, The Netherlands.

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April 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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June 2019

Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy.

Authors:
Gabriela Oesch A Murat Maga Seth D Friedman Sandra L Poliachik Christopher B Budech Jason N Wright Levinus A Bok Sidney M Gospe

Neurology 2018 07 6;91(1):e78-e86. Epub 2018 Jun 6.

From the Division of Pediatric Neurology (G.O., S.M.G.), Departments of Neurology and Pediatrics, University of Washington, and Seattle Children's Hospital; Division of Craniofacial Medicine (A.M.M.), Department of Pediatrics, University of Washington and Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute; Department of Radiology (S.D.F., S.L.P., C.B.B., J.N.W.), Seattle Children's Hospital, WA; and Department of Pediatrics (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands.

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July 2018

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

Authors:
Jonas Straub Enrico D H Konrad Johanna Grüner Annick Toutain Levinus A Bok Megan T Cho Heather P Crawford Holly Dubbs Ganka Douglas Rebekah Jobling Diana Johnson Bryan Krock Mohamad A Mikati Addie Nesbitt Joost Nicolai Meredith Phillips Annapurna Poduri Xilma R Ortiz-Gonzalez Zöe Powis Avni Santani Lacey Smith Alexander P A Stegmann Constance Stumpel Maaike Vreeburg Anna Fliedner Anne Gregor Heinrich Sticht Christiane Zweier

Am J Hum Genet 2018 01 21;102(1):44-57. Epub 2017 Dec 21.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address:

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January 2018

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Authors:
Margot R F Reijnders Robert Janowski Mohsan Alvi Jay E Self Ton J van Essen Maaike Vreeburg Rob P W Rouhl Servi J C Stevens Alexander P A Stegmann Jolanda Schieving Rolph Pfundt Katinke van Dijk Eric Smeets Connie T R M Stumpel Levinus A Bok Jan Maarten Cobben Marc Engelen Sahar Mansour Margo Whiteford Kate E Chandler Sofia Douzgou Nicola S Cooper Ene-Choo Tan Roger Foo Angeline H M Lai Julia Rankin Andrew Green Tuula Lönnqvist Pirjo Isohanni Shelley Williams Ilene Ruhoy Karen S Carvalho James J Dowling Dorit L Lev Katalin Sterbova Petra Lassuthova Jana Neupauerová Jeff L Waugh Sotirios Keros Jill Clayton-Smith Sarah F Smithson Han G Brunner Ceciel van Hoeckel Mel Anderson Virginia E Clowes Victoria Mok Siu The Ddd Study Paulo Selber Richard J Leventer Christoffer Nellaker Dierk Niessing David Hunt Diana Baralle

J Med Genet 2018 02 2;55(2):104-113. Epub 2017 Nov 2.

Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.

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February 2018

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

Authors:
Tom S Koemans Tjitske Kleefstra Melissa C Chubak Max H Stone Margot R F Reijnders Sonja de Munnik Marjolein H Willemsen Michaela Fenckova Connie T R M Stumpel Levinus A Bok Margarita Sifuentes Saenz Kyna A Byerly Linda B Baughn Alexander P A Stegmann Rolph Pfundt Huiqing Zhou Hans van Bokhoven Annette Schenck Jamie M Kramer

PLoS Genet 2017 Oct 25;13(10):e1006864. Epub 2017 Oct 25.

Department of Biology, Faculty of Science, Western University, London, Ontario, Canada.

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October 2017

haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment.

Authors:
Cemre Celen Jen-Chieh Chuang Xin Luo Nadine Nijem Angela K Walker Fei Chen Shuyuan Zhang Andrew S Chung Liem H Nguyen Ibrahim Nassour Albert Budhipramono Xuxu Sun Levinus A Bok Meriel McEntagart Evelien F Gevers Shari G Birnbaum Amelia J Eisch Craig M Powell Woo-Ping Ge Gijs We Santen Maria Chahrour Hao Zhu

Elife 2017 07 11;6. Epub 2017 Jul 11.

Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.

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July 2017

Parry Romberg syndrome presenting with a giant intracranial aneurysm: a case report.

Authors:
Ilse H de Lange Anna Mt van Oploo Feico Jj Halbertsma F George Roos Levinus A Bok

Oxf Med Case Reports 2017 May 30;2017(5):omx017. Epub 2017 May 30.

Department of Paediatrics, Máxima Medical Center, 5504 DB Veldhoven, The Netherlands.

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May 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Authors:
Konrad Platzer Hongjie Yuan Hannah Schütz Alexander Winschel Wenjuan Chen Chun Hu Hirofumi Kusumoto Henrike O Heyne Katherine L Helbig Sha Tang Marcia C Willing Brad T Tinkle Darius J Adams Christel Depienne Boris Keren Cyril Mignot Eirik Frengen Petter Strømme Saskia Biskup Dennis Döcker Tim M Strom Heather C Mefford Candace T Myers Alison M Muir Amy LaCroix Lynette Sadleir Ingrid E Scheffer Eva Brilstra Mieke M van Haelst Jasper J van der Smagt Levinus A Bok Rikke S Møller Uffe B Jensen John J Millichap Anne T Berg Ethan M Goldberg Isabelle De Bie Stephanie Fox Philippe Major Julie R Jones Elaine H Zackai Rami Abou Jamra Arndt Rolfs Richard J Leventer John A Lawson Tony Roscioli Floor E Jansen Emmanuelle Ranza Christian M Korff Anna-Elina Lehesjoki Carolina Courage Tarja Linnankivi Douglas R Smith Christine Stanley Mark Mintz Dianalee McKnight Amy Decker Wen-Hann Tan Mark A Tarnopolsky Lauren I Brady Markus Wolff Lutz Dondit Helio F Pedro Sarah E Parisotto Kelly L Jones Anup D Patel David N Franz Rena Vanzo Elysa Marco Judith D Ranells Nataliya Di Donato William B Dobyns Bodo Laube Stephen F Traynelis Johannes R Lemke

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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July 2017

Commentary on clinical significance of CYP2C9-status-guided valproic acid therapy in children.

Authors:
Rolf C W Gielgens Levinus A Bok

Epilepsia 2016 08;57(8):1338-9

Department of Pediatrics, Maxima Medical Center, Veldhoven, The Netherlands.

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August 2016

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

Authors:
Déborah Mathis Lucia Abela Monique Albersen Céline Bürer Lisa Crowther Karin Beese Hans Hartmann Levinus A Bok Eduard Struys Sorina M Papuc Anita Rauch Martin Hersberger Nanda M Verhoeven-Duif Barbara Plecko

J Inherit Metab Dis 2016 09 24;39(5):733-741. Epub 2016 Jun 24.

Division of Child Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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September 2016

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Authors:
Michael D Fountain Emmelien Aten Megan T Cho Jane Juusola Magdalena A Walkiewicz Joseph W Ray Fan Xia Yaping Yang Brett H Graham Carlos A Bacino Lorraine Potocki Arie van Haeringen Claudia A L Ruivenkamp Pedro Mancias Hope Northrup Mary K Kukolich Marjan M Weiss Conny M A van Ravenswaaij-Arts Inge B Mathijssen Sebastien Levesque Naomi Meeks Jill A Rosenfeld Danielle Lemke Ada Hamosh Suzanne K Lewis Simone Race Laura L Stewart Beverly Hay Andrea M Lewis Rita L Guerreiro Jose T Bras Marcia P Martins Gerarda Derksen-Lubsen Els Peeters Connie Stumpel Sander Stegmann Levinus A Bok Gijs W E Santen Christian P Schaaf

Genet Med 2017 01 19;19(1):45-52. Epub 2016 May 19.

Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, USA.

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January 2017

Prevalence of systemic air-embolism after prolonged cardiopulmonary resuscitation in newborns: A pilot study.

Authors:
Feico J J Halbertsma Thilo Mohns Levinus A Bok Hendrik J Niemarkt Boris W Kramer

Resuscitation 2015 Aug 16;93:96-101. Epub 2015 Jun 16.

Maastricht University Medical Centre, Maastricht, The Netherlands.

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August 2015

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Authors:
Merel Klaassens Deborah Morrogh Elisabeth M Rosser Fatima Jaffer Maaike Vreeburg Levinus A Bok Tim Segboer Martine van Belzen Ros M Quinlivan Ajith Kumar Jane A Hurst Richard H Scott

Eur J Hum Genet 2015 May 13;23(5):610-5. Epub 2014 Aug 13.

1] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK [2] Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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May 2015

Callosal alterations in pyridoxine-dependent epilepsy.

Authors:
Seth D Friedman Gisele E Ishak Sandra L Poliachik Andrew V Poliakov Randolph K Otto Dennis W W Shaw Michèl A Willemsen Levinus A Bok Sidney M Gospe

Dev Med Child Neurol 2014 Nov 18;56(11):1106-10. Epub 2014 Jun 18.

Department of Radiology, Seattle Children's Hospital, Seattle, WA, USA.

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November 2014

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.

Authors:
Clara D M van Karnebeek Sylvia Stockler-Ipsiroglu Sravan Jaggumantri Birgit Assmann Peter Baxter Daniela Buhas Levinus A Bok Barbara Cheng Curtis R Coughlin Anibh M Das Alette Giezen Wahla Al-Hertani Gloria Ho Uta Meyer Philippa Mills Barbara Plecko Eduard Struys Keiko Ueda Monique Albersen Nanda Verhoeven Sidney M Gospe Renata C Gallagher Johan K L Van Hove Hans Hartmann

JIMD Rep 2014 19;15:1-11. Epub 2014 Apr 19.

Centre for Molecular Medicine and Therapeutics, 3091-950 West 28th Avenue, Vancouver, Canada, V5Z 4H4,

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November 2014

Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases.

Authors:
Ruud H J Verstegen Stephan Borte Levinus A Bok Paul H Th van Zwieten Ulrika von Döbeln Lennart Hammarström Esther de Vries

J Allergy Clin Immunol 2014 Apr 9;133(4):1208-11. Epub 2013 Dec 9.

Department of Pediatrics, Jeroen Bosch Hospital, 's-Hertogenbosch, The Netherlands. Electronic address:

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April 2014

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

Authors:
Clara D M van Karnebeek Hans Hartmann Sravan Jaggumantri Levinus A Bok Barb Cheng Mary Connolly Curtis R Coughlin Anibh M Das Sidney M Gospe Cornelis Jakobs Johanna H van der Lee Saadet Mercimek-Mahmutoglu Uta Meyer Eduard Struys Graham Sinclair Johan Van Hove Jean-Paul Collet Barbara R Plecko Sylvia Stockler

Mol Genet Metab 2012 Nov 10;107(3):335-44. Epub 2012 Sep 10.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada.

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November 2012

Long-term outcome in pyridoxine-dependent epilepsy.

Authors:
Levinus A Bok Feico J Halbertsma Saskia Houterman Ron A Wevers Charlotte Vreeswijk Cornelis Jakobs Eduard Struys Johan H Van Der Hoeven Deborah A Sival Michèl A Willemsen

Dev Med Child Neurol 2012 Sep 13;54(9):849-54. Epub 2012 Jul 13.

Department of Pediatrics, Máxima Medical Center, Veldhoven, the Netherlands.

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September 2012

Development of children with symptomatic intracranial hemorrhage born after vacuum extraction.

Authors:
Marjolein J C Schot Feico J J Halbertsma Titia Katgert Levinus A Bok

J Child Neurol 2013 Apr 29;28(4):520-3. Epub 2012 Jun 29.

Department of Pediatrics and Neonatal ICU, Máxima Medisch Centrum, Veldhoven, The Netherlands.

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April 2013

Spontaneous perinatal epidural haemorrhage in a newborn.

Authors:
Elke Kroon Levinus A Bok Feico Halbertsma

BMJ Case Rep 2012 Feb 21;2012. Epub 2012 Feb 21.

Pediatrics Department, Maxima Medisch Centrum Veldhoven, Veldhoven, Netherlands.

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February 2012

The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

Authors:
Eduard A Struys Levinus A Bok Dina Emal Saskia Houterman Michel A Willemsen Cornelis Jakobs

J Inherit Metab Dis 2012 Sep 17;35(5):909-16. Epub 2012 Jan 17.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, Amsterdam, The Netherlands.

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September 2012

Neurodevelopmental outcome in full-term newborns with refractory neonatal seizures.

Authors:
Imke A Maartens Tessa Wassenberg Jan Buijs Levinus Bok Martin J K de Kleine Titia Katgert Peter Andriessen

Acta Paediatr 2012 Apr 1;101(4):e173-8. Epub 2011 Dec 1.

Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, The Netherlands.

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April 2012

[A girl with rapidly progressive ataxia].

Authors:
Levinus A Bok Feico Jan Halbertsma

Ned Tijdschr Geneeskd 2011 ;155:A2166

Maxima Medisch Centrum, afd. Pediatrie en Neonatale IC, Veldhoven, the Netherlands.

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September 2011

Roth spots in pyridoxine dependent epilepsy.

Authors:
Levinus A Bok Feico Halbertsma Frank Kerkhoff Cornelis Jakobs Carola Duijsters Michèl Willemsen

BMJ Case Rep 2011 Aug 17;2011. Epub 2011 Aug 17.

Department of Pediatrics, Maxima Medisch Centrum Veldhoven, Veldhoven, Brabant, Netherlands.

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August 2011

The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.

Authors:
Levinus A Bok Natasha M Maurits Michèl A Willemsen Cornelis Jakobs Laura K Teune Bwee Tien Poll-The Irenaeus F de Coo Mona C Toet Eveline E Hagebeuk Oebele F Brouwer Johannes H van der Hoeven Deborah A Sival

Epilepsia 2010 Dec 30;51(12):2406-11. Epub 2010 Sep 30.

Department of Pediatrics, Máxima Medical Center, Veldhoven, The Netherlands.

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December 2010

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.

Authors:
Levinus A Bok Jasper V Been Eduard A Struys Cornelis Jakobs Elisabeth A M Rijper Michèl A Willemsen

Eur J Pediatr 2010 Mar 9;169(3):297-303. Epub 2009 Jul 9.

Department of Paediatrics, Máxima Medical Centre, P.O. Box 7777, 5500 MB, Veldhoven, The Netherlands.

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March 2010

Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures.

Authors:
Jasper V Been Levinus A Bok Michèl A A P Willemsen Eduard A Struys Cornelis Jakobs

Arq Neuropsiquiatr 2008 Jun;66(2A):288; author reply 288-9

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June 2008

Extensive cerebral infarction in the newborn due to incontinentia pigmenti.

Authors:
Femke Maingay-de Groof Maarten H Lequin Daniella W Roofthooft Arnold P Oranje Irenaeus F de Coo Levinus A Bok Peter J van der Spek Grazia M Mancini Paul P Govaert

Eur J Paediatr Neurol 2008 Jul 22;12(4):284-9. Epub 2007 Oct 22.

Neonatal Intensive Care Unit, Erasmus MC Sophia Rotterdam, The Netherlands.

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July 2008

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Authors:
Gajja S Salomons Levinus A Bok Eduard A Struys Lorna Landegge Pope Patricia S Darmin Philippa B Mills Peter T Clayton Michèl A Willemsen Cornelis Jakobs

Ann Neurol 2007 Oct;62(4):414-8

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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October 2007

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

Authors:
Levinus A Bok Eduard Struys Michel A A P Willemsen Jasper V Been Cornelis Jakobs

Arch Dis Child 2007 Aug 6;92(8):687-9. Epub 2006 Nov 6.

Department of Paediatrics, Máxima Medical Center, Veldhoven, The Netherlands.

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August 2007

Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.

Authors:
Levinus A Bok Peter Vreken Frits A Wijburg Ronald J A Wanders Niels Gregersen Morten J Corydon Hans R Waterham Marinus Duran

Pediatrics 2003 Nov;112(5):1152-5

Maxima Medisch Centrum, Veldhoven, The Netherlands.

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November 2003