Publications by authors named "Thomas Dorn"

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Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.
Emanuele Cerulli Irelli, Martina Fanella, Boris Chaumette, Carolina Putotto, Cyril Mignot, Thomas Dorn

Epilepsia· March 2025

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Correction: The landscape of epilepsy-related GATOR1 variants.
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, Marjan van Kempen, Eva H Brilstra, Thomas Dorn

Genet Med· August 2019

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Correction to: The landscape of epilepsy-related GATOR1 variants.
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, Marjan van Kempen, Eva H Brilstra, Thomas Dorn

Genet Med· July 2019

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Diagnostic implications of genetic copy number variation in epilepsy plus.
Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Thomas Dorn

Epilepsia· April 2019

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Clinical spectrum of -related epileptic disorders.
Stefan Wolking, Patrick May, Davide Mei, Rikke S Møller, Simona Balestrini, Thomas Dorn

Neurology· March 2019

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The landscape of epilepsy-related GATOR1 variants.
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, Marjan van Kempen, Eva H Brilstra, Thomas Dorn

Genet Med· February 2019

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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Thomas Dorn

Brain· May 2017

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Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Katrine Johannesen, Carla Marini, Siona Pfeffer, Rikke S Møller, Thomas Dorn

Neurology· September 2016

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Towards a Molecular Syndromology of the Epilepsies.
Thomas Dorn, Johannes R Lemke

Mol Syndromol· September 2016

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Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.
Vincent Strehlow, Marielle E M Swinkels, Rhys H Thomas, Nora Rapps, Steffen Syrbe, Thomas Dorn

Mol Syndromol· September 2016

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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Johannes R Lemke, Kirsten Geider, Katherine L Helbig, Henrike O Heyne, Hannah Schütz, Thomas Dorn

Neurology· June 2016

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[Work and epilepsy--facts and phantasies].
Thomas Dorn

Praxis (Bern 1994)· November 2015

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Investigation of GRIN2A in common epilepsy phenotypes.
Dennis Lal, Sandra Steinbrücker, Julian Schubert, Thomas Sander, Felicitas Becker, Thomas Dorn

Epilepsy Res· September 2015

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Galanin pathogenic mutations in temporal lobe epilepsy.
Michel Guipponi, Amina Chentouf, Kristin E B Webling, Krista Freimann, Arielle Crespel, Thomas Dorn

Hum Mol Genet· June 2015

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Steffen Syrbe, Ulrike B S Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Thomas Dorn

Nat Genet· April 2015

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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Thomas Dorn

PLoS Genet· March 2015

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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Julian Schubert, Aleksandra Siekierska, Mélanie Langlois, Patrick May, Clément Huneau, Thomas Dorn

Nat Genet· December 2014

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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Dalia Kasperaviciute, Claudia B Catarino, Mar Matarin, Costin Leu, Jan Novy, Thomas Dorn

Brain· October 2013

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γ-Hydroxybutyrate-associated encephalopathy and excitation documented with electroencephalogram and video: a case report and review of the literature.
Ernst Seiffert, Ian Mothersill, Günter Krämer, Thomas Dorn

J Clin Psychopharmacol· June 2013

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Waste disposal technology transfer matching requirement clusters for waste disposal facilities in China.
Thomas Dorn, Michael Nelles, Sabine Flamme, Cai Jinming

Waste Manag· November 2012

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Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Johannes R Lemke, Erik Riesch, Tim Scheurenbrand, Max Schubach, Christian Wilhelm, Thomas Dorn

Epilepsia· August 2012

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A review of energy recovery from waste in China.
Thomas Dorn, Sabine Flamme, Michael Nelles

Waste Manag Res· April 2012

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["I believe we've become more vigilant" (interview by Margrit Bachi)].
Sandra Ohle, Thomas Dorn

Krankenpfl Soins Infirm· December 2011

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Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery.
Claudia B Catarino, Dalia Kasperavičiūtė, Maria Thom, Gianpiero L Cavalleri, Lillian Martinian, Thomas Dorn

Epilepsia· August 2011

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Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
Dalia Kasperaviciūte, Claudia B Catarino, Erin L Heinzen, Chantal Depondt, Gianpiero L Cavalleri, Thomas Dorn

Brain· July 2010

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