Hiltrud Muhle

Hiltrud Muhle

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Hiltrud Muhle

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 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

Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.

Neuropediatrics 2018 10 25;49(5):342-346. Epub 2018 May 25.

Department of Neuropediatrics, University Medical Center Schleswig Holstein, Kiel, Germany.

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http://dx.doi.org/10.1055/s-0038-1653978DOI Listing
October 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

Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern.

Epilepsy Res 2017 05 28;132:84-90. Epub 2017 Feb 28.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel University, Kiel, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2017.02.008DOI Listing
May 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Neurology 2017 01 4;88(5):483-492. Epub 2017 Jan 4.

From the Danish Epilepsy Centre (R.S.M., K.M.J., M.N.), Dianalund; Institute for Regional Health Services (R.S.M., K.M.J., M.N.), University of Southern Denmark, Odense; Department of Neurology and Epileptology (T.V.W., S.V., H.L., S.M.), Hertie Institute for Clinical Brain Research, and Department of Neurosurgery (T.V.W.), University of Tübingen; Department of Neuropediatrics (I.H., M.P., S.v.S., H.M.), University Medical Center Schleswig-Holstein, Kiel, Germany; Division of Neurology (I.H., S.H., H.D.), The Children's Hospital of Philadelphia, PA; Neuroscience Department (C.M., R.G.), Children's Hospital Anna Meyer-University of Florence, Italy; Department of Genetics (E.H.B., M.S., K.L.v.G.), University Medical Center Utrecht, the Netherlands; Department of Neurology and Neurorehabilitation (U.V., I.T., T.T.), Children's Clinic of Tartu University Hospital, Estonia; Department of Pediatric Neurology and Epilepsy Center (I.B.), LMU Munich, Germany; Department of Pediatrics (I.T., T.T.), University of Tartu; Tallinn Children's Hospital (I.T.), Tallinn, Estonia; Clinic for Neuropediatrics and Neurorehabilitation (G.K., C.B., H.H.), Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical Private University (G.K.), Salzburg, Austria; Neuropeadiatric Department (L.L.F.), Hospices Civils de Lyon; Department of Genetics (G.L., N.C.), Lyon University Hospitals; Claude Bernard Lyon I University (G.L., N.C.); Lyon Neuroscience Research Centre (G.L., N.C.), CNRS UMR5292, INSERM U1028; Epilepsy, Sleep and Pediatric Neurophysiology Department (J.d.B.), Lyon University Hospitals, France; Clinic for Pediatric Neurology (S.B.), Pediatric Department, University Hospital, Herlev, Denmark; Kleinwachau (N.H.), Sächsisches Epilepsiezentrum Radeberg, Dresden; Department of Neuropediatrics/Epilepsy Center (J.J.), University Medical Center Freiburg; Department of General Paediatrics (S.S.), Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Department of Women and Child Health (S.S.), Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Germany; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Amplexa Genetics (L.H.G.L., H.A.D.), Odense, Denmark; Northern German Epilepsy Center for Children and Adolescents (S.v.S.), Schwentinental-Raisdorf, Germany; Wilhelm Johannsen Centre for Functional Genome Research (Y.M., N.T.), Department of Cellular and Molecular Medicine, University of Copenhagen; Danish Epilepsy Center (G.R.), Filadelfia/University of Copenhagen, Denmark; Department of Diagnostics (J.R.L.), Institute of Human Genetics, University of Leipzig; and Svt. Luka's Institute of Child Neurology and Epilepsy (K.M.), Moscow, Russia. Dr Maljevic is currently at the Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278942PMC
January 2017

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

Galanin pathogenic mutations in temporal lobe epilepsy.

Hum Mol Genet 2015 Jun 17;24(11):3082-91. Epub 2015 Feb 17.

Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddv060DOI Listing
June 2015

Seizure control in a patient with Dravet syndrome and cystic fibrosis.

Epilepsy Behav Case Rep 2013 29;1:42-4. Epub 2013 Mar 29.

Department of Neurology, Christian-Albrechts-University of Kiel, Arnold-Heller-Str. 3, Haus 41, 24105 Kiel, Germany.

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http://dx.doi.org/10.1016/j.ebcr.2013.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150651PMC
February 2015

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

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

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Neurology 2014 Apr 12;82(14):1245-53. Epub 2014 Mar 12.

From the Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.H., J.C., E.G., H.C.M.), and the Department of Genome Sciences (J.S.), University of Washington, Seattle; Neurogenetics Group (S.W.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Epilepsy Research Centre (J.M.M., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Department of Neuropediatrics (C.H., H.M., S.v.S., I.H.), University Medical Center, Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Danish Epilepsy Centre (R.S.M., H.H., M.N.), Dianalund; Institute for Regional Health Services (H.H., M.N.), University of Southern Denmark, Odense, Denmark; Department of Molecular and Medical Genetics (B.J.O.), Oregon Health and Science University, Portland; Florey Institute (S.P., A.C., E.V.G., I.E.S.), Victoria; TY Nelson Department of Neurology (D.G.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Paediatrics (L.G.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Epilepsy Research Program (B.L.H., L.M.D.), School of Pharmacy and Medical Sciences, University of South Australia, Adelaide; Division of Neurology (P.D.J.), Antwerp University Hospital, Belgium; and the Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000029
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http://dx.doi.org/10.1212/WNL.0000000000000291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001207PMC
April 2014

EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome).

Neurology 2014 Apr 2;82(17):1508-13. Epub 2014 Apr 2.

From the Department of Neuropediatrics (F.M., K.G., J.M., H.M., U.S.) and Institute of Neuroradiology (S.W., O.J.), Christian-Albrechts-University, Kiel; and University Hospital of Child and Adolescent Psychiatry (M.S.), Johann Wolfgang Goethe-University of Frankfurt, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000000359DOI Listing
April 2014

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.

Epilepsy Res 2014 Jan 26;108(1):109-16. Epub 2013 Oct 26.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH, Campus Kiel), Kiel, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2013.10.001DOI Listing
January 2014

CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.

J Child Neurol 2013 Jul 25;28(7):937-41. Epub 2012 Jul 25.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.

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http://journals.sagepub.com/doi/10.1177/0883073812451497
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http://dx.doi.org/10.1177/0883073812451497DOI Listing
July 2013

The role of SLC2A1 in early onset and childhood absence epilepsies.

Epilepsy Res 2013 Jul 8;105(1-2):229-33. Epub 2013 Jan 8.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.

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http://dx.doi.org/10.1016/j.eplepsyres.2012.11.004DOI Listing
July 2013

Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome.

Epilepsia 2013 May 8;54(5):918-26. Epub 2013 Feb 8.

Department of Neuropediatrics, Christian-Albrechts-University, Kiel, Germany.

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http://dx.doi.org/10.1111/epi.12119DOI Listing
May 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

Exome sequencing in a family with restless legs syndrome.

Mov Disord 2012 Nov;27(13):1686-9

Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/mds.25191DOI Listing
November 2012

A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.

Eur J Med Genet 2011 Sep-Oct;54(5):e505-9. Epub 2011 Jun 16.

Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.05.005DOI Listing
December 2011

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome.

Epilepsia 2011 Dec 2;52(12):e194-8. Epub 2011 Nov 2.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03301.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3270691PMC
December 2011

Comprehensive analysis of candidate genes for photosensitivity using a complementary bioinformatic and experimental approach.

Epilepsia 2011 Oct 29;52(10):e143-7. Epub 2011 Aug 29.

Department of Neuropediatrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany.

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http://doi.wiley.com/10.1111/j.1528-1167.2011.03197.x
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http://dx.doi.org/10.1111/j.1528-1167.2011.03197.xDOI Listing
October 2011

A retrospective population-based study on seizures related to childhood vaccination.

Epilepsia 2011 Aug 21;52(8):1506-12. Epub 2011 Jun 21.

Department of Neuropediatrics, Christian-Albrechts-University Kiel and University Medical Centre Schleswig-Holstein, Kiel, Germany.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03134.xDOI Listing
August 2011

Valproate reduces spontaneous generalized spikes and waves but not photoparoxysmal reactions in patients with idiopathic generalized epilepsies.

Epilepsia 2011 Jul 11;52(7):1297-302. Epub 2011 Apr 11.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Campus Kiel, Christian-Albrechts-University, Arnold-Heller-Strasse 3, Kiel, Germany.

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http://doi.wiley.com/10.1111/j.1528-1167.2011.03058.x
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http://dx.doi.org/10.1111/j.1528-1167.2011.03058.xDOI Listing
July 2011

Decomposition of neurological multivariate time series by state space modelling.

Bull Math Biol 2011 Feb 4;73(2):285-324. Epub 2010 Sep 4.

Department of Neuropediatrics, University of Kiel, 24098, Kiel, Germany.

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http://link.springer.com/10.1007/s11538-010-9563-y
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http://dx.doi.org/10.1007/s11538-010-9563-yDOI Listing
February 2011

Absence seizures: individual patterns revealed by EEG-fMRI.

Epilepsia 2010 Oct 17;51(10):2000-10. Epub 2010 Aug 17.

Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02698.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3769289PMC
October 2010

Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity.

Neuromolecular Med 2010 Sep 24;12(3):292-9. Epub 2010 Jun 24.

Department of Neuropediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller-Str.3, Building 9, Kiel, Germany.

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http://dx.doi.org/10.1007/s12017-010-8122-xDOI Listing
September 2010

EEG-fMRI study of generalized spike and wave discharges without transitory cognitive impairment.

Epilepsy Behav 2010 Jul 1;18(3):313-6. Epub 2010 Jun 1.

Department of Neuropediatrics, Christian-Albrechts-University, Kiel, Germany.

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http://dx.doi.org/10.1016/j.yebeh.2010.02.013DOI Listing
July 2010

Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?

Eur J Pediatr 2010 Apr 26;169(4):495-500. Epub 2009 Aug 26.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, Arnold-Heller-Str. 3, Haus 9, 24105, Kiel, Germany.

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http://link.springer.com/10.1007/s00431-009-1046-5
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http://dx.doi.org/10.1007/s00431-009-1046-5DOI Listing
April 2010

fMRI activation during spike and wave discharges evoked by photic stimulation.

Neuroimage 2009 Dec 18;48(4):682-95. Epub 2009 Jul 18.

Department of Neuropediatrics, Christian-Albrechts-University, Kiel, Germany.

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http://dx.doi.org/10.1016/j.neuroimage.2009.07.019DOI Listing
December 2009

Hashimoto encephalopathy in a 15-year-old-girl: EEG findings and follow-up.

Pediatr Neurol 2009 Oct;41(4):301-4

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts-Universität zu Kiel, 24105 Kiel, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.04.023DOI Listing
October 2009

Mapping brain activity on the verge of a photically induced generalized tonic-clonic seizure.

Epilepsia 2009 Jun 12;50(6):1632-7. Epub 2009 Mar 12.

Department of Neuropediatrics, Christian-Albrechts-University, Kiel, Germany.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02011.xDOI Listing
June 2009

Simultaneous EEG-fMRI in drug-naive children with newly diagnosed absence epilepsy.

Epilepsia 2008 Sep 24;49(9):1510-9. Epub 2008 Apr 24.

Department of Neuropediatrics, Christian-Albrechts-University, Kiel, Germany.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01626.xDOI Listing
September 2008

Photosensitivity in epileptic syndromes of childhood and adolescence.

Epileptic Disord 2008 Jun;10(2):136-43

Neuropaediatric Department of University Hospital of Schleswig-Holstein, Campus Kiel, Germany.

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http://www.cibtech.org/J-MEDICAL-SCIENCES/PUBLICATIONS/2012/
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http://www.jle.com/download/--epd-277766-photosensitivity_in
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http://dx.doi.org/10.1684/epd.2008.0183DOI Listing
June 2008

Changes in activity of striato-thalamo-cortical network precede generalized spike wave discharges.

Neuroimage 2008 Feb 17;39(4):1839-49. Epub 2007 Nov 17.

Department of Neuropediatrics, Christian-Albrechts-University, Kiel, Germany.

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http://dx.doi.org/10.1016/j.neuroimage.2007.10.058DOI Listing
February 2008

Hemodynamic responses to interictal epileptiform discharges in children with symptomatic epilepsy.

Epilepsia 2007 Nov 21;48(11):2068-78. Epub 2007 Jul 21.

Neuropediatric Department, Christian-Albrechts-University Kiel, Schwanenweg 20, Kiel, Germany.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01192.xDOI Listing
November 2007

Spreading photoparoxysmal EEG response is associated with an abnormal cortical excitability pattern.

Brain 2007 Jan 21;130(Pt 1):78-87. Epub 2006 Nov 21.

Neuropediatric Department, Pediatric Hospital, Christian Albrechts University, Kiel, Germany.

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http://dx.doi.org/10.1093/brain/awl306DOI Listing
January 2007

Localized short-range correlations in the spectrum of the equal-time correlation matrix.

Phys Rev E Stat Nonlin Soft Matter Phys 2006 Oct 24;74(4 Pt 1):041119. Epub 2006 Oct 24.

Facultad de Ciencias, Universidad Autónoma del Estado de Morelos, 62209 Cuernavaca, Morelos, México.

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October 2006

Association of BRD2 polymorphisms with photoparoxysmal response.

Neurosci Lett 2006 May 3;400(1-2):135-9. Epub 2006 Mar 3.

Gene Mapping Center, Max-Delbrück-Center for Molecular Medicine, Robert-Rössle-Str. 10, 13125 Berlin, Germany.

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http://dx.doi.org/10.1016/j.neulet.2006.02.026DOI Listing
May 2006

Detection and characterization of changes of the correlation structure in multivariate time series.

Phys Rev E Stat Nonlin Soft Matter Phys 2005 Apr 14;71(4 Pt 2):046116. Epub 2005 Apr 14.

Facultad de Ciencias, Universidad Autónoma del Estado de Morelos, 62210 Cuernavaca, Morelos, Mexico.

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https://link.aps.org/doi/10.1103/PhysRevE.71.046116
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April 2005