Publications by authors named "Bernd A Neubauer"

69Publications

To the Reviewers of Neuropediatrics in 2019.

Neuropediatrics 2020 08 21;51(4):237-240. Epub 2020 Jul 21.

Department of Pediatric Neurology, Univiversity Clinic Giessen, Giessen, Germany.

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http://dx.doi.org/10.1055/s-0040-1713930DOI Listing
August 2020

Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature.

Epilepsy Behav 2019 09 10;98(Pt A):88-95. Epub 2019 Jul 10.

Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe-University Frankfurt, Frankfurt am Main, Germany; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany; Epilepsy Center Hessen and Department of Neurology, Philipps-University Marburg, Marburg (Lahn), Germany. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2019.06.021DOI Listing
September 2019

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Mol Biol Rep 2019 Aug 3;46(4):4507-4516. Epub 2019 Jul 3.

Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Ammerländer Heerstr. 114-118, 26129, Oldenburg, Germany.

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http://dx.doi.org/10.1007/s11033-019-04906-4DOI Listing
August 2019

Quality of life and correlating factors in children, adolescents with epilepsy, and their caregivers: A cross-sectional multicenter study from Germany.

Seizure 2019 Jul 29;69:92-98. Epub 2019 Mar 29.

Epilepsy Center Hessen and Department of Neurology, Philipps-University Marburg, Marburg (Lahn), Germany; Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe University Frankfurt, Frankfurt am Main, Germany; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183052
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http://dx.doi.org/10.1016/j.seizure.2019.03.016DOI Listing
July 2019

Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany.

Eur J Paediatr Neurol 2019 May 28;23(3):392-403. Epub 2019 Feb 28.

Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe-University, Frankfurt am Main, Germany; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University, Frankfurt am Main, Germany; Department of Neuropediatrics, Goethe-University Frankfurt, Frankfurt am Main, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2019.02.014DOI Listing
May 2019

[Acceptance, demand, reasons for consultation and outcome of counseling on epilepsy in Hesse and Lower Franconia].

Nervenarzt 2019 Aug;90(8):832-839

Epilepsiezentrum Frankfurt Rhein-Main, Zentrum der Neurologie und Neurochirurgie, Goethe-Universität Frankfurt, Schleusenweg 2-16, 60528, Frankfurt am Main, Deutschland.

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http://dx.doi.org/10.1007/s00115-019-0676-8DOI Listing
August 2019

Counseling and social work for people with epilepsy in Germany: A cross-sectional multicenter study on demand, frequent content, patient satisfaction, and burden-of-disease.

Epilepsy Behav 2019 03 14;92:114-120. Epub 2019 Jan 14.

Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University Frankfurt, Frankfurt am Main, Germany; Epilepsy Center Hessen, Department of Neurology, Philipps-University Marburg, Marburg (Lahn), Germany. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2018.12.004DOI Listing
March 2019

Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies.

Clin EEG Neurosci 2019 Jul 17;50(4):267-272. Epub 2018 Aug 17.

1 Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr von Haunersches Children's Hospital, University of Munich, Munich, Germany.

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http://journals.sagepub.com/doi/10.1177/1550059418794347
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http://dx.doi.org/10.1177/1550059418794347DOI Listing
July 2019

In Memoriam: Professor Hermann Doose.

Neuropediatrics 2018 08 19;49(4):299-300. Epub 2018 Jun 19.

Department of Pediatric Neurology, Children's Hospital Essen, Germany.

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http://dx.doi.org/10.1055/s-0038-1665549DOI Listing
August 2018

Erratum: Rett Syndrome.

Authors:
Bernd A Neubauer

Neuropediatrics 2018 04 26;49(2):e1. Epub 2018 Feb 26.

Department of Pediatric Neurology, University Childreńs Hospital (UKGM), Giessen, Germany.

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http://dx.doi.org/10.1055/s-0038-1636996DOI Listing
April 2018

Duplications at 19q13.33 in patients with neurodevelopmental disorders.

Neurol Genet 2018 Feb 26;4(1):e210. Epub 2018 Jan 26.

Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820601PMC
February 2018

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

PLoS One 2018 19;13(1):e0191546. Epub 2018 Jan 19.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0191546PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774806PMC
February 2018

Rett Syndrome.

Authors:
Bernd A Neubauer

Neuropediatrics 2018 04 13;49(2):161-162. Epub 2017 Dec 13.

Department of Pediatric Neurology, University Childreńs Hospital (UKGM), Giessen, Germany.

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http://dx.doi.org/10.1055/s-0037-1609054DOI Listing
April 2018

Chorea Minor Associated with Anti-Neurochondrin Autoantibodies.

Neuropediatrics 2017 12 29;48(6):482-483. Epub 2017 Sep 29.

Department of Child Neurology, Justus-Liebig University Gießen, Gießen, Germany.

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http://dx.doi.org/10.1055/s-0037-1606371DOI Listing
December 2017

Abstracts of the 43rd Annual Meeting of the Society for Neuropediatrics.

Authors:
Bernd A Neubauer

Neuropediatrics 2017 Apr 8;48(S 01):e1. Epub 2017 May 8.

Department of Neuropediatrics, Developmental Medicine and Epileptology, Children's Medical Center Giessen, University of Giessen, Giessen, Germany.

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http://dx.doi.org/10.1055/s-0037-1602699DOI Listing
April 2017

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.

Neuropediatrics 2017 Dec 15;48(6):451-455. Epub 2017 Apr 15.

Department of Child Neurology, Justus Liebig University, Giessen, Germany.

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http://dx.doi.org/10.1055/s-0037-1601868DOI Listing
December 2017

Invitation and Welcome to the 43rd Annual Meeting of the Society for Neuropediatrics.

Neuropediatrics 2017 04 21;48(2):61. Epub 2017 Mar 21.

Department of Pediatric Neurology, University Hospital Giessen, Giessen, Germany.

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http://dx.doi.org/10.1055/s-0037-1601319DOI Listing
April 2017

Treatment of Super-Refractory Status Epilepticus in FIRES.

Authors:
Bernd A Neubauer

Neuropediatrics 2017 Feb 27;48(1):3-4. Epub 2016 Dec 27.

Department of Pediatric Neurology, University Hospital Giessen, Giessen, Germany.

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http://dx.doi.org/10.1055/s-0036-1597615DOI Listing
February 2017

Sphenoid Wing Dysplasia with Pulsatile Exophthalmos in Neurofibromatosis Type 1.

Neuropediatrics 2016 Aug 9;47(4):278-9. Epub 2016 Jun 9.

Department of Child Neurology, Justus-Liebig University Gießen, Gießen, Germany.

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http://dx.doi.org/10.1055/s-0036-1584350DOI Listing
August 2016

Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation.

Neuropediatrics 2016 Jun 11;47(3):197-201. Epub 2016 Apr 11.

Department of Neuropediatrics, Justus-Liebig-University, Giessen, Germany.

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http://dx.doi.org/10.1055/s-0036-1579785DOI Listing
June 2016

Sulcal Artery Syndrome in a 10-Year-Old Boy.

Neuropediatrics 2016 Jun 18;47(3):202-4. Epub 2016 Mar 18.

Department of Child Neurology, Justus-Liebig University Gießen, Gießen, Germany.

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https://www.thieme-connect.com/products/ejournals/pdf/10.105
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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0036-1579634
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http://dx.doi.org/10.1055/s-0036-1579634DOI Listing
June 2016

From Genetics to Genomics: A Short Introduction for Pediatric Neurologists.

Neuropediatrics 2016 Jan 16;47(1):5-11. Epub 2015 Nov 16.

Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1055/s-0035-1566448DOI Listing
January 2016

Investigation of GRIN2A in common epilepsy phenotypes.

Epilepsy Res 2015 Sep 2;115:95-9. Epub 2015 Jun 2.

Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2015.05.010DOI Listing
September 2015

Syndromes at risk of status epilepticus in children: genetic and pathophysiological issues.

Epileptic Disord 2014 Oct;16 Spec No 1:S89-95

Department of Child Neurology, University of Giessen, Giessen, Germany.

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http://dx.doi.org/10.1684/epd.2014.0688DOI Listing
October 2014

DEPDC5 mutations in genetic focal epilepsies of childhood.

Ann Neurol 2014 May 14;75(5):788-92. Epub 2014 Apr 14.

Cologne Center for Genomics, University of Cologne, Cologne, Germany; Department of Neuropediatrics, University Medical Center Giessen and Marburg, Giessen, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.

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http://doi.wiley.com/10.1002/ana.24127
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http://dx.doi.org/10.1002/ana.24127DOI Listing
May 2014

RBFOX1 and RBFOX3 mutations in rolandic epilepsy.

PLoS One 2013 6;8(9):e73323. Epub 2013 Sep 6.

Cologne Center for Genomics, University of Cologne, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany ; Department of Neuropediatrics, University Medical Clinic Giessen, Giessen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073323PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765197PMC
June 2014

Epileptic diaphragm myoclonus.

Epileptic Disord 2012 Dec;14(4):418-21

Department of Neuropediatrics, University of Giessen, Giessen, Germany.

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http://dx.doi.org/10.1684/epd.2012.0540DOI Listing
December 2012

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.

Brain Dev 2009 Aug 22;31(7):515-20. Epub 2009 May 22.

Department of Neuropediatrics, Feulgenstr. 12, D-35385 Giessen, Germany.

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http://dx.doi.org/10.1016/j.braindev.2009.04.012DOI Listing
August 2009

Noninvasive determination of the tension-time index in Duchenne muscular dystrophy.

Am J Phys Med Rehabil 2009 Apr;88(4):322-7

Department of Neuropediatrics, University of Giessen, Giessen, Germany.

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http://dx.doi.org/10.1097/PHM.0b013e3181909dfaDOI Listing
April 2009

Non-invasive tension time index in relation to severity of disease in children with cystic fibrosis.

Pediatr Pulmonol 2008 Oct;43(10):973-81

Department of Neuropediatrics, University of Giessen, Giessen, Germany.

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http://doi.wiley.com/10.1002/ppul.20887
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http://dx.doi.org/10.1002/ppul.20887DOI Listing
October 2008

Epilepsy in childhood and adolescence.

Dtsch Arztebl Int 2008 Apr 25;105(17):319-27; quiz 327-8. Epub 2008 Apr 25.

Abteilung Neuropädiatrie, Sozialpädiatrie und Epileptologie, Zentrum Kinder- und Jugendmedizin, Universitätsklinikum Giessen und Marburg GmbH, Feulgenstrasse 12, Giessen, Germany.

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http://dx.doi.org/10.3238/arztebl.2008.0319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2696870PMC
April 2008

Evaluation of susceptibility loci in an extended pedigree with idiopathic generalized epilepsy.

Epileptic Disord 2008 Mar;10(1):13-8

Interdisciplinary Epilepsy-Center, Department of Neurology, Philipps-University Marburg, Germany.

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http://dx.doi.org/10.1684/epd.2008.0170DOI Listing
March 2008

fMRI correlates of interictal epileptic activity in patients with idiopathic benign focal epilepsy of childhood. A simultaneous EEG-functional MRI study.

Epilepsy Res 2007 Jun 23;75(1):29-38. Epub 2007 May 23.

Department of Neurology, Johann Wolfgang Goethe-University and Brain Imaging Center, Frankfurt/Main, Germany.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.03.016DOI Listing
June 2007

Pronounced microcephaly in a patient with malignant migrating partial seizures in infancy.

Epileptic Disord 2007 Mar 15;9(1):94-7. Epub 2007 Feb 15.

Department of Neuropediatrics, University of Giessen, Germany.

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http://dx.doi.org/10.1684/epd.2007.0055DOI Listing
March 2007

Monitoring cardiac function by B-type natriuretic peptide (BNP) in patients with infantile Pompe's disease treated with recombinant alpha-glucosidase.

Clin Lab 2006 ;52(11-12):615-9

Department of Neuropediatrics, University of Giessen, Giessen, Germany.

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January 2007

Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients.

Hum Mutat 2006 Oct;27(10):1061-2

Institut für Biochemie, Emil-Fischer-Zentrum, Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/humu.9455DOI Listing
October 2006

[Autism and metabolic disorders-a rational approach].

Z Kinder Jugendpsychiatr Psychother 2005 Oct;33(4):259-71

Abteilung Neuropädiatrie und Sozialpädiatrie, Zentrum Kinderheilkunde, Justus-Liebig-Universität, Giessen.

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http://dx.doi.org/10.1024/1422-4917.33.4.259DOI Listing
October 2005

P50 sensory gating deficit in children with centrotemporal spikes and sharp waves in the EEG.

Neurosci Lett 2006 Jan 24;393(2-3):206-10. Epub 2005 Oct 24.

University Children's Hospital Münster, Department of Neuropediatrics, Albert-Schweitzer-Str. 33, D-48149 Münster, Germany.

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http://dx.doi.org/10.1016/j.neulet.2005.09.071DOI Listing
January 2006

Genetics of photosensitivity (photoparoxysmal response): a review.

Epilepsia 2004 ;45 Suppl 1:19-23

Clinic for Neuropediatrics of the University of Kiel, Kiel, Germany.

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http://dx.doi.org/10.1111/j.0013-9580.2004.451008.xDOI Listing
December 2007

Endoscopic surgical anatomy of the paediatric third ventricle studied using virtual neuroendoscopy based on 3-D ultrasonography.

Childs Nerv Syst 2003 Jun 16;19(5-6):325-31. Epub 2003 May 16.

Department of Neurosurgery, University Medical Centre, Justus Liebig University, Klinikstrasse 29, 35385, Giessen, Germany.

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http://link.springer.com/10.1007/s00381-003-0748-7
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http://dx.doi.org/10.1007/s00381-003-0748-7DOI Listing
June 2003

Clinical spectrum and genetics of Rolandic epilepsy.

Adv Neurol 2002 ;89:475-9

Division of Neuropediatrics, Justus-Liebig-University, Giessen, Germany.

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October 2002