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Infection and Drug Resistance, 09/2016, Volume 9, pp. 221 - 227
This is a systematic review of cases with Lemierre’s syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or... 
Fusobacteria | Lemierre’s syndrome | Postanginal sepsis | Liver | Nervous system | Infections | Metastasis | Tonsillitis | Neck pain | Pain | Piperacillin | Bacteria | Meningitis | Jugular vein | Anticoagulants | Mortality | Patients | Thrombosis | Pharynx | Osteomyelitis | Hospitals | Antibiotics | Lungs | Respiratory distress syndrome | Tazobactam | Sepsis | Diabetes | Pharyngitis | Metronidazole | Veins & arteries
Journal Article
Expert review of molecular diagnostics, 01/2019, p. 1
Within the last decade, next-generation sequencing (NGS) has resulted in remarkable advances in the field of epilepsy genetics. NGS has become a routine part... 
Journal Article
Ugeskrift for Laeger, ISSN 0041-5782, 2017, Volume 179, Issue 7, pp. 601 - 604
Journal Article
by Wolff, Markus and Johannesen, Katrine M and Hedrich, Ulrike B. S and Masnada, Silvia and Rubboli, Guido and Gardella, Elena and Lesca, Gaetan and Ville, Dorothée and Milh, Mathieu and Villard, Laurent and Afenjar, Alexandra and Chantot-Bastaraud, Sandra and Mignot, Cyril and Lardennois, Caroline and Nava, Caroline and Schwarz, Niklas and Gérard, Marion and Perrin, Laurence and Doummar, Diane and Auvin, Stéphane and Miranda, Maria J and Hempel, Maja and Brilstra, Eva and Knoers, Nine and Verbeek, Nienke and Van Kempen, Marjan and Braun, Kees P and Mancini, Grazia and Biskup, Saskia and Hörtnagel, Konstanze and Döcker, Miriam and Bast, Thomas and Loddenkemper, Tobias and Wong-Kisiel, Lily and Baumeister, Friedrich M and Fazeli, Walid and Striano, Pasquale and Dilena, Robertino and Fontana, Elena and Zara, Federico and Kurlemann, Gerhard and Klepper, Joerg and Thoene, Jess G and Arndt, Daniel H and Deconinck, Nicolas and Schmitt-Mechelke, Thomas and Maier, Oliver and Muhle, Hiltrud and Wical, Beverly and Finetti, Claudio and Brückner, Reinhard and Pietz, Joachim and Golla, Günther and Jillella, Dinesh and Linnet, Karen M and Charles, Perrine and Moog, Ute and Õiglane-Shlik, Eve and Mantovani, John F and Park, Kristen and Deprez, Marie and Lederer, Damien and Mary, Sandrine and Scalais, Emmanuel and Selim, Laila and Van Coster, Rudy and Lagae, Lieven and Nikanorova, Marina and Hjalgrim, Helle and Korenke, G. Christoph and Trivisano, Marina and Specchio, Nicola and Ceulemans, Berten and Dorn, Thomas and Helbig, Katherine L and Hardies, Katia and Stamberger, Hannah and De Jonghe, Peter and Weckhuysen, Sarah and Lemke, Johannes R and Krägeloh-Mann, Ingeborg and Helbig, Ingo and Kluger, Gerhard and Lerche, Holger and Møller, Rikke S
Brain, ISSN 0006-8950, 05/2017, Volume 140, Issue 5, pp. 1316 - 1336
Journal Article
Neurotherapeutics, ISSN 1933-7213, 1/2016, Volume 13, Issue 1, pp. 190 - 191
Journal Article
Journal of Neurology, ISSN 0340-5354, 7/2016, Volume 263, Issue 7, pp. 1459 - 1460
Journal Article
European Journal of Clinical Microbiology & Infectious Diseases, ISSN 0934-9723, 1/2019, Volume 38, Issue 1, pp. 75 - 80
Journal Article
Epilepsia, ISSN 0013-9580, 02/2018, Volume 59, Issue 2, pp. 389 - 402
ObjectivePathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to... 
epilepsy | MAE | epilepsy genetics | SLC | 6A1 | SLC6A1 | MYOCLONIC-ASTATIC EPILEPSY | ATTENTION | GABA TRANSPORTERS | ILAE COMMISSION | CLASSIFICATION | TERMINOLOGY | CLINICAL NEUROLOGY | CHILDHOOD ABSENCE EPILEPSY | INTELLECTUAL DISABILITY | SEIZURES | POSITION PAPER | Epilepsy, Generalized - genetics | Epilepsies, Partial - drug therapy | Humans | Child, Preschool | Intellectual Disability - complications | Male | Electroencephalography | Neurodevelopmental Disorders - genetics | Epilepsy, Generalized - complications | Mutation, Missense | Epilepsies, Partial - physiopathology | Intellectual Disability - genetics | Young Adult | Adult | Female | Valproic Acid - therapeutic use | Language Development Disorders - physiopathology | Ataxia - genetics | Child | Epilepsies, Myoclonic - genetics | Epilepsies, Partial - complications | Ataxia - physiopathology | Genetic Association Studies | Language Development Disorders - genetics | Neurodevelopmental Disorders - complications | Anticonvulsants - therapeutic use | Epilepsies, Myoclonic - physiopathology | Treatment Outcome | Epilepsies, Myoclonic - complications | Language Development Disorders - complications | Intellectual Disability - physiopathology | GABA Plasma Membrane Transport Proteins - genetics | Phenotype | Epilepsy, Generalized - physiopathology | Epilepsy, Generalized - drug therapy | Adolescent | Ataxia - complications | Epilepsies, Myoclonic - drug therapy | Epilepsies, Partial - genetics | Mutation | Cohort Studies | Medical research | Divalproex | Epilepsy | Medicine, Experimental | Genetic aspects | Seizures (Medicine) | Valproic acid | Phenotypes | Convulsions & seizures | Sleep | Language | EEG | Cognitive ability | Speech | Ataxia | Seizures | Index Medicus | Life Sciences | Genetics | Human genetics
Journal Article
Epilepsy Research, ISSN 0920-1211, 07/2018, Volume 143, pp. 79 - 81
-related epilepsies are often severe developmental and epileptic encephalopathies. Seizures can be treatment resistant, and patients suffer from severe... 
SUDEP | Epilepsy | SCN8A | Mortality | ENCEPHALOPATHY | SCN8A MUTATION | CLINICAL NEUROLOGY | Death, Sudden - epidemiology | Humans | Child, Preschool | Infant | Male | Risk | Epilepsy - mortality | Adolescent | Epilepsy - genetics | Female | NAV1.6 Voltage-Gated Sodium Channel - genetics | Child | Cohort Studies | Disease susceptibility | Health aspects | Index Medicus
Journal Article
Epilepsia, ISSN 0013-9580, 05/2019, Volume 60, Issue 5, pp. 830 - 844
Journal Article
Expert Review of Molecular Diagnostics, ISSN 1473-7159, 03/2019, Volume 19, Issue 3, pp. 217 - 228
Introduction: Within the last decade, next-generation sequencing (NGS) has resulted in remarkable advances in the field of epilepsy genetics. NGS has become a... 
precision medicine | NGS | Epilepsy | epileptic encephalopathy | personalized medicine | MAMMALIAN TARGET | ONSET EPILEPTIC ENCEPHALOPATHY | DRAVET SYNDROME | PATHOLOGY | POTASSIUM CHANNEL GENE | FOCAL CORTICAL DYSPLASIA | SODIUM-CHANNEL | PHENOTYPIC SPECTRUM | DE-NOVO MUTATIONS | GAIN-OF-FUNCTION | LINKED MENTAL-RETARDATION
Journal Article
Neurology, ISSN 0028-3878, 01/2017, Volume 88, Issue 5, pp. 483 - 492
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2016, Volume 7, Issue 4, pp. 210 - 219
In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since... 
Original Article | Epileptic encephalopathies | Familial epilepsies | Gene panel testing | Seizures | Original
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2016, Volume 7, Issue 4, pp. 248 - 248
Journal Article