Yvonne G Weber

Yvonne G Weber

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Yvonne G Weber

Yvonne G Weber

Publications by authors named "Yvonne G Weber"

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Clinical spectrum of -related epileptic disorders.

Neurology 2019 Mar 8;92(11):e1238-e1249. Epub 2019 Feb 8.

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000007089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511102PMC
March 2019

The glucose transporter type 1 (Glut1) syndromes.

Epilepsy Behav 2019 Feb 31;91:90-93. Epub 2018 Jul 31.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2018.06.010DOI Listing
February 2019

Development of a rapid functional assay that predicts GLUT1 disease severity.

Neurol Genet 2018 Dec 6;4(6):e297. Epub 2018 Dec 6.

Florey Institute of Neuroscience and Mental Health (S.M.Z., S.A.M., S.M., E.V.G., A.M.P., G.D.J., I.E.S., C.A.R., S. Petrou.); Department of Medicine (RMH) University of Melbourne (S.M.Z., S. Petrovski, M.S.H., J.D., S. Petrou); Department of Medicine (Austin Health) (M.S.H., J.D., S.F.B., I.E.S.), University of Melbourne, Heidelberg; Department of Neurology and Epileptology (H.L., Y.G.W.), Hertie Institute for Clinical Brain Research, University of Tübingen; School of Biosciences (A.M.P.), University of Melbourne, Parkville, Australia; APHP (S.A.), Hôpital Robert Debré, Service de Neurologie Pédiatrique; Univ Paris Diderot (S.A.), Sorbonne Paris Cité, INSERM UMR1141, Paris, France; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville, Australia.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290489PMC
December 2018

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Functional variants in and may contribute to genetic generalized epilepsy.

Epilepsia Open 2017 09 5;2(3):334-342. Epub 2017 Aug 5.

Department of Neurology and Epileptology Hertie-Institute for Clinical Brain-Research University of Tübingen Tübingen Germany.

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http://dx.doi.org/10.1002/epi4.12068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862120PMC
September 2017

The role of genetic testing in epilepsy diagnosis and management.

Expert Rev Mol Diagn 2017 08 26;17(8):739-750. Epub 2017 Jun 26.

a Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research , University of Tübingen , Tubingen , Germany.

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http://dx.doi.org/10.1080/14737159.2017.1335598DOI Listing
August 2017

Reply.

Ann Neurol 2016 07 10;80(1):168-9. Epub 2016 May 10.

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

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http://dx.doi.org/10.1002/ana.24669DOI Listing
July 2016

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

Epilepsia 2015 Sep 15;56(9):e129-33. Epub 2015 Jul 15.

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

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http://dx.doi.org/10.1111/epi.13076DOI Listing
September 2015

Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?

Epilepsy Res 2015 Aug 1;114:47-51. Epub 2015 May 1.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2015.04.012DOI Listing
August 2015

SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.

Neuropediatrics 2015 Aug 25;46(4):287-91. Epub 2015 Jun 25.

Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, 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-0035-1554098
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http://dx.doi.org/10.1055/s-0035-1554098DOI Listing
August 2015

Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature.

J Neurol 2014 Oct 15;261(10):1881-6. Epub 2014 Jul 15.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler Strasse 3, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00415-014-7433-5DOI Listing
October 2014

Genetic biomarkers in epilepsy.

Neurotherapeutics 2014 Apr;11(2):324-33

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

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http://dx.doi.org/10.1007/s13311-014-0262-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3996127PMC
April 2014

Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.

Seizure 2013 Jul 16;22(6):483-6. Epub 2013 Apr 16.

Department of Epileptology and Life&Brain Center, University of Bonn, Germany.

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http://dx.doi.org/10.1016/j.seizure.2013.03.003DOI Listing
July 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
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http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.

Mov Disord 2009 Aug;24(11):1684-8

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.22507DOI Listing
August 2009

Genetics of paroxysmal dyskinesias.

Curr Neurol Neurosci Rep 2009 May;9(3):206-11

Neurological Clinic and Institute of Applied Physiology, University of Ulm, Zentrum Klinische Forschung, Helmholtzstr. 8/1, D-89081 Ulm, Germany.

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May 2009

A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.

Epilepsia 2008 Nov 8;49(11):1959-64. Epub 2008 May 8.

Neurologische Klinik, Universität Ulm, Germany.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01646.xDOI Listing
November 2008

Genetic mechanisms in idiopathic epilepsies.

Dev Med Child Neurol 2008 Sep;50(9):648-54

Department of Neurology, Univeristy of Ulm, Germany.

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http://doi.wiley.com/10.1111/j.1469-8749.2008.03058.x
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http://dx.doi.org/10.1111/j.1469-8749.2008.03058.xDOI Listing
September 2008

Epileptic nystagmus: two case reports, clinical and pathophysiological review of the literature.

J Neurol 2006 Jun 6;253(6):767-71. Epub 2006 Mar 6.

Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081 Ulm, Germany.

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http://dx.doi.org/10.1007/s00415-006-0114-2DOI Listing
June 2006

Immunohistochemical analysis of KCNQ3 potassium channels in mouse brain.

Neurosci Lett 2006 May 2;400(1-2):101-4. Epub 2006 Mar 2.

Department of Neurology, University of Ulm, Germany.

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http://dx.doi.org/10.1016/j.neulet.2006.02.017DOI Listing
May 2006

Immunohistochemical analysis of KCNQ2 potassium channels in adult and developing mouse brain.

Brain Res 2006 Mar 28;1077(1):1-6. Epub 2006 Feb 28.

Department of Neurology of the University of Ulm, Germany.

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http://dx.doi.org/10.1016/j.brainres.2006.01.023DOI Listing
March 2006

Ion channel defects in idiopathic epilepsies.

Curr Pharm Des 2005 ;11(21):2737-52

Department of Applied Physiology, University of Ulm, Germany.

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https://www.uni-ulm.de/fileadmin/website_uni_ulm/med.herti/F
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http://dx.doi.org/10.2174/1381612054546815DOI Listing
August 2005