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Author Details

Thomas Dorn
Universitat Rostock
1989
46
20
PMIDPaper TitleJournal TitlePublished Year
30262923Correction: The landscape of epilepsy-related GATOR1 variants.Genet Med2019
30158694Correction to: The landscape of epilepsy-related GATOR1 variants.Genet Med2019
30093711The landscape of epilepsy-related GATOR1 variants.Genet Med2019
30737342Clinical spectrum of <i>STX1B</i>-related epileptic disorders.Neurology2019
28379373Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.Brain2017
27521439Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.Neurology2016
27781034Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.Mol Syndromol2016
27781026Towards a Molecular Syndromology of the Epilepsies.Mol Syndromol2016
27164704Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.Neurology2016
25751627De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.Nat Genet2015
26558934[Work and epilepsy--facts and phantasies].Praxis (Bern 1994)2015
26220384Investigation of GRIN2A in common epilepsy phenotypes.Epilepsy Res2015
25691535Galanin pathogenic mutations in temporal lobe epilepsy.Hum Mol Genet2015
25807530Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.PLoS Genet2015
25362483Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.Nat Genet2014
23609399γ-Hydroxybutyrate-associated encephalopathy and excitation documented with electroencephalogram and video: a case report and review of the literature.J Clin Psychopharmacol2013
24014518Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.Brain2013
22612257Targeted next generation sequencing as a diagnostic tool in epileptic disorders.Epilepsia2012
22770778Waste disposal technology transfer matching requirement clusters for waste disposal facilities in China.Waste Manag2012
22492261A review of energy recovery from waste in China.Waste Manag Res2012
21635232Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery.Epilepsia2011
21977773["I believe we've become more vigilant" (interview by Margrit Bachi)].Krankenpfl Soins Infirm2011
20398883Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.Am J Hum Genet2010
20522523Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.Brain2010
20148377Prevalence and incidence of endocrine disorders in children: results of a survey in Baden-Wuerttemberg and Bavaria (EndoPrIn BB) 2000-2001.Klin Padiatr2010
19016831Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.Epilepsia2009
25488817Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.Neurogenetics2009
19695908Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?Seizure2009
18648728Automatic striatal volumetry allows for identification of patients with chorea-acanthocytosis at single subject level.J Neural Transm (Vienna)2008
18583161Smoking reduces serum levels of lamotrigine.Seizure2008
16673358The spectrum of WRN mutations in Werner syndrome patients.Hum Mutat2006
15459826Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.Neurogenetics2004
15249610Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.Neurology2004
14530629Wernicke encephalopathy - a severe neurological complication in a clinically inactive Crohn's disease.Eur Neurol2003
11902892Metastable isonitrosyl structure of the nitroprusside anion confirmed by nuclear inelastic scattering.J Am Chem Soc2002
11433709[Dostoievsky's life in the interrelation between epilepsy and literature].Nervenarzt2001
11817154[Epilepsy. Classification and genetics].Ther Umsch2001
11673026Epilepsy and trisomy 19q--different seizure patterns in a brother and a sister.Epilepsy Res2001
7530642Refractory periods following interictal spikes in acute experimentally induced epileptic foci.Electroencephalogr Clin Neurophysiol1995
7757256Regional hypometabolism in an acute model of focal epileptic activity in the rat.Eur J Neurosci1995
7706581A case of myoclonus epilepsy and lactic acidosis: difficulties in diagnosis and treatment of terminal mitochondrial cytopathy.Intensive Care Med1994
8358620Separation of different interictal discharge patterns in acute experimentally induced epileptic foci of the rat in vivo.Brain Res1993
1653511Response properties of thick myelinated group II afferents in the medial articular nerve of normal and inflamed knee joints of the cat.Somatosens Mot Res1991
2026210Participation of interneurons in penicillin-induced epileptic discharges.Exp Brain Res1991
1849250Afterpotentials following penicillin-induced paroxysmal depolarizations in rat hippocampal CA1 pyramidal cells in vitro.Pflugers Arch1991
2612607Calcium-dependent potassium current following penicillin-induced epileptiform discharges in the hippocampal slice.Exp Brain Res1989
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Collaborators

G??nter Kr??mer
University Hospital
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Sanjay M Sisodiya
UCL Institute of Neurology
Co-authored papers 10
Ingo Helbig
Children's Hospital of Philadelphia
Co-authored papers 8
Otto W Witte
Jena University Hospital - Friedrich Schiller University of Jena
Co-authored papers 6
Saskia Biskup
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Co-authored papers 6
J??rg Hansen
University Children's Hospital
Co-authored papers 6
Chantal Depondt
Hopital Universitaire de Bruxelles - Hopital Erasme
Co-authored papers 4
Dalia Kasperaviciute
Genomics England Ltd.
Co-authored papers 4
Gianpiero L Cavalleri
School of Pharmacy and Biomolecular Sciences, Ireland FutureNeuro SFI Research Centre
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Claudia B Catarino
Friedrich-Baur-Institut, Ludwig-Maximilians-Universitat Munchen
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University of Toronto, Toronto Western Hospital
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Kuopio University Hospital, University of Eastern Finland
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Reetta K??lvi??inen
Kuopio University Hospital, University of Eastern Finland
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Renske Oegema
University Medical Center Utrecht.
Co-authored papers 3
Selvaraj Krithika
Co-authored papers 3
Massimo Pandolfo
Universite Libre de Bruxelles (ULB)
Co-authored papers 3
Bernhard J Steinhoff
University of Freiburg
Co-authored papers 3
Kai Eriksson
Tampere University
Co-authored papers 3
Erin L Heinzen
University of North Carolina at Chapel Hill.
Co-authored papers 3
Colin P Doherty
St James's Hospital
Co-authored papers 3
Anna C Jansen
Vrije Universiteit Brussel
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Martin Zenker
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David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
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John S Duncan
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Aarno Palotie
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Maja Steinlin
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