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1. Full Text Danish national clinical guidelines for surgical and nonsurgical treatment of patients with lumbar spinal stenosis
by Rousing, Rikke and Jensen, Rikke Krüger and Fruensgaard, Søren and Strøm, Janni and Brøgger, Helle Algren and Degn, Jørgen Dan Møller and Andersen, Mikkel Ø
European spine journal, ISSN 0940-6719, 6/2019, Volume 28, Issue 6, pp. 1386 - 1396
Surgical and nonsurgical interventions | Guideline | Surgical Orthopedics | Neurosurgery | Medicine & Public Health | Lumbar spinal stenosis | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Orthopedics | Science & Technology | Stenosis | Practice guidelines (Medicine) | Care and treatment | Spinal canal | Surgery | Paracetamol | Muscle relaxants | Pain | Working groups | Opioids | Clinical trials | Decompression | Nonsteroidal anti-inflammatory drugs | Patients | Index Medicus
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2. Full Text Phenotypic and genetic spectrum of SCN8A‐related disorders, treatment options, and outcomes
by Gardella, Elena and Møller, Rikke S
Epilepsia (Copenhagen), ISSN 0013-9580, 12/2019, Volume 60, Issue S3, pp. S77 - S85
epilepsy | movement disorders | voltage‐gated sodium channels | SCN8A | autism | intellectual disability | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Death, Sudden - etiology | Seizures - genetics | Humans | Brain Diseases - genetics | Child, Preschool | Infant | Male | Mutation - genetics | Seizures - therapy | Electroencephalography - methods | Epilepsy - diagnosis | Intellectual Disability - genetics | Young Adult | Brain Diseases - therapy | Adolescent | Adult | Epilepsy - genetics | Female | NAV1.6 Voltage-Gated Sodium Channel - genetics | Child | Care and treatment | Movement disorders | Ketogenesis | Intellectual disabilities | Epilepsy | Cognitive ability | High fat diet | Sleep disorders | Low carbohydrate diet | Convulsions & seizures | Apnea | Encephalopathy | Sodium channels (voltage-gated) | Ataxia | Children | Seizures | Dyskinesia | Extrapyramidal system | Myoclonus | EEG | Heredity | Etiracetam | Neurological diseases | Choreoathetosis | Blindness | Death | Index Medicus
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3. Full Text Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
by Carvill, Gemma L and Heavin, Sinéad B and Yendle, Simone C and McMahon, Jacinta M and O'Roak, Brian J and Cook, Joseph and Khan, Adiba and Dorschner, Michael O and Weaver, Molly and Calvert, Sophie and Malone, Stephen and Wallace, Geoffrey and Stanley, Thorsten and Bye, Ann M.E and Bleasel, Andrew and Howell, Katherine B and Kivity, Sara and Mackay, Mark T and Rodriguez-Casero, Victoria and Webster, Richard and Korczyn, Amos and Afawi, Zaid and Zelnick, Nathanel and Lerman-Sagie, Tally and Lev, Dorit and Møller, Rikke S and Gill, Deepak and Andrade, Danielle M and Freeman, Jeremy L and Sadleir, Lynette G and Shendure, Jay and Berkovic, Samuel F and Scheffer, Ingrid E and Mefford, Heather C
Nature genetics, ISSN 1061-4036, 07/2013, Volume 45, Issue 7, pp. 825 - 830
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease - genetics | Humans | Child, Preschool | Male | DNA Mutational Analysis - methods | DNA-Binding Proteins - genetics | Epilepsy - diagnosis | Epilepsy - epidemiology | Young Adult | Mutation - physiology | ras GTPase-Activating Proteins - genetics | Adolescent | Adult | Epilepsy - genetics | Female | Child | Cohort Studies | Usage | Epilepsy | Development and progression | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Studies | Medical research | Genetics | Mutation | Index Medicus
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4. Full Text De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
by Appenzeller, Silke and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Dimova, Petia and Djémié, Tania and Gormley, Padhraig and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby and Komarek, Vladimir and Krause, Roland and Kuhlenbäumer, Gregor and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Pendziwiat, Manuela and Robbiano, Angela and Roelens, Filip and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Sadleir, Lynette and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and ... and Epilepsy Phenome/Genome Project and Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project
American journal of human genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fatty Acid Synthase, Type I - genetics | Receptors, GABA-B - genetics | Synaptic Transmission - genetics | Humans | Male | Spasms, Infantile - genetics | Gene Regulatory Networks | Mutation - genetics | Dynamin I - genetics | Lennox Gastaut Syndrome - genetics | Protein Interaction Maps | Exome - genetics | Ryanodine Receptor Calcium Release Channel - genetics | Female | Infant, Newborn | Cohort Studies | Genetic research | Genetic aspects | Research | Gene mutations | Epilepsy | Proteins | Consortia | Genetic disorders | Mutation | Genomics | Index Medicus
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5. Full Text The incidence of SCN1A‐related Dravet syndrome in Denmark is 1:22,000: A population‐based study from 2004 to 2009
by Bayat, Allan and Hjalgrim, Helle and Møller, Rikke S
Epilepsia (Copenhagen), ISSN 0013-9580, 04/2015, Volume 56, Issue 4, pp. e36 - e39
Epileptic encephalopathy | Severe myoclonic epilepsy in infancy | SCN1A mutation | Dravet syndrome | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | NAV1.1 Voltage-Gated Sodium Channel - genetics | Child, Preschool | Epilepsies, Myoclonic - epidemiology | Male | Mutation - genetics | Incidence | Epilepsies, Myoclonic - diagnosis | Denmark - epidemiology | Female | Retrospective Studies | Child | Population Surveillance - methods | Cohort Studies | Epilepsies, Myoclonic - genetics | Medicine, Experimental | Medical research | Babies | Mutation | Index Medicus
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6. Full Text Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
by Lemke, Johannes R and Lal, Dennis and Reinthaler, Eva M and Steiner, Isabelle and Nothnagel, Michael and Alber, Michael and Geider, Kirsten and Laube, Bodo and Schwake, Michael and Finsterwalder, Katrin and Franke, Andre and Schilhabel, Markus and Jähn, Johanna A and Muhle, Hiltrud and Boor, Rainer and Van Paesschen, Wim and Caraballo, Roberto and Fejerman, Natalio and Weckhuysen, Sarah and De Jonghe, Peter and Larsen, Jan and Møller, Rikke S and Hjalgrim, Helle and Addis, Laura and Tang, Shan and Hughes, Elaine and Pal, Deb K and Veri, Kadi and Vaher, Ulvi and Talvik, Tiina and Dimova, Petia and Guerrero López, Rosa and Serratosa, José M and Linnankivi, Tarja and Lehesjoki, Anna-Elina and Ruf, Susanne and Wolff, Markus and Buerki, Sarah and Wohlrab, Gabriele and Kroell, Judith and Datta, Alexandre N and Fiedler, Barbara and Kurlemann, Gerhard and Kluger, Gerhard and Hahn, Andreas and Haberlandt, D Edda and Kutzer, Christina and Sperner, Jürgen and Becker, Felicitas and Weber, Yvonne G and Feucht, Martha and Steinböck, Hannelore and Neophythou, Birgit and Ronen, Gabriel M and Gruber-Sedlmayr, Ursula and Geldner, Julia and Harvey, Robert J and Hoffmann, Per and Herms, Stefan and Altmüller, Janine and Toliat, Mohammad R and Thiele, Holger and Nürnberg, Peter and Wilhelm, Christian and Stephani, Ulrich and Helbig, Ingo and Lerche, Holger and Zimprich, Fritz and Neubauer, Bernd A and Biskup, Saskia and Von Spiczak, Sarah
Nature genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1067 - 1072
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Epilepsies, Partial - diagnosis | Humans | Receptors, N-Methyl-D-Aspartate - metabolism | Models, Molecular | Male | Mutation, Missense | Receptors, N-Methyl-D-Aspartate - genetics | Pedigree | Receptors, N-Methyl-D-Aspartate - chemistry | Female | Protein Conformation | Epilepsies, Partial - genetics | Mutation | Amino Acid Substitution | Genetic aspects | Research | Gene mutations | Health aspects | Epilepsy | Risk factors | Studies | Medical research | Genotype & phenotype | Biomedical research | Womens health | Index Medicus
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7. Full Text Why You Need to Consider Genetic Testing of Children with Epilepsy
by Møller, Rikke Steensbjerre
Neuropediatrics, ISSN 0174-304X, 04/2018, Volume 49, Issue S 01, pp. S1 - S12
Invited Speakers' Abstracts
Conference Proceeding
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8. Full Text Genetic testing in adult epilepsy patients: A call to action for clinicians
by Rubboli, Guido and Møller, Rikke S and Johannesen, Katrine M
Epilepsia (Copenhagen), ISSN 0013-9580, 09/2020, Volume 61, Issue 9, pp. 2055 - 2056
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Epilepsy | Genetic screening | Index Medicus
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9. Full Text Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures
by Carvill, Gemma L and McMahon, Jacinta M and Schneider, Amy and Zemel, Matthew and Myers, Candace T and Saykally, Julia and Nguyen, John and Robbiano, Angela and Zara, Federico and Specchio, Nicola and Mecarelli, Oriano and Smith, Robert L and Leventer, Richard J and Møller, Rikke S and Nikanorova, Marina and Dimova, Petia and Jordanova, Albena and Petrou, Steven and Helbig, Ingo and Striano, Pasquale and Weckhuysen, Sarah and Berkovic, Samuel F and Scheffer, Ingrid E and Mefford, Heather C and Euroepinomics RES MAE/Dravet working group and EuroEPINOMICS Rare Epilepsy Syndro and EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group
American journal of human genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, pp. 808 - 815
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Epilepsy, Generalized - genetics | GABA Plasma Membrane Transport Proteins - genetics | Genetic Predisposition to Disease | Animals | Humans | Male | Epilepsies, Myoclonic - pathology | Epilepsy, Generalized - pathology | High-Throughput Nucleotide Sequencing | Mice | Mutation | Epilepsies, Myoclonic - genetics | Gene mutations | Epilepsy | GABA | Genetic aspects | Seizures (Medicine) | Health aspects | Identification and classification | Brain | Convulsions & seizures | Rodents | Index Medicus | Report
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10. Full Text 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
by Schmitz, Bettina and Zimprich, Fritz and Nothnagel, Michael and de Haan, Gerrit-Jan and Mefford, Heather C and Weber, Yvonne and Hjalgrim, Helle and Rosenow, Felix and Baker, Carl and Franke, Andre and Wittig, Michael and Steinich, Ines and Lerche, Holger and Eichler, Evan E and Urak, Lydia and Kleefuß-Lie, Ailing A and Romano, Corrado and de Kovel, Carolien and Fichera, Marco and Gaus, Verena and Sharp, Andrew J and Schreiber, Stefan and Malafosse, Alain and Helbig, Ingo and Thomas, Pierre and Muhle, Hiltrud and Klein, Karl M and Genton, Pierre and Guipponi, Michel and Fuchs, Karoline and Sander, Thomas and Visscher, Frank and Elger, Christian E and Koeleman, Bobby P C and Møller, Rikke S and Nürnberg, Peter and Kron, Katherine L and Leu, Costin and Feucht, Martha and Reif, Philipp S and Stephani, Ulrich and Lindhout, Dick and von Spiczak, Sarah and Luciano, Daniela
Nature genetics, ISSN 1061-4036, 02/2009, Volume 41, Issue 2, pp. 160 - 162
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Nervous system (semeiology, syndromes) | Chromosome Deletion | Epilepsy, Generalized - genetics | Genetic Predisposition to Disease | Humans | Risk Factors | Child, Preschool | Male | Case-Control Studies | Young Adult | Comparative Genomic Hybridization | Chromosomes, Human, Pair 15 | Adolescent | Adult | Female | Child | Receptors, Nicotinic - genetics | alpha7 Nicotinic Acetylcholine Receptor | Gene mutations | Epilepsy | Schizophrenia | Genetic aspects | Diagnosis | Research | Health aspects | Risk factors | Genotype & phenotype | Genetic disorders | Families & family life | Data base management | Independent sample | Index Medicus
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11. Full Text Amylopectin Chain Length Dynamics and Activity Signatures of Key Carbon Metabolic Enzymes Highlight Early Maturation as Culprit for Yield Reduction of Barley Endosperm Starch after Heat Stress
by Cuesta-Seijo, Jose Antonio and De Porcellinis, Alice Jara and Valente, Angela Hordum and Striebeck, Alexander and Voss, Cynthia and Marri, Lucia and Hansson, Andreas and Jansson, Anita M and Dinesen, Malene Hessellund and Fangel, Jonatan Ulrik and Harholt, Jesper and Popovic, Milan and Thieme, Mercedes and Hochmuth, Anton and Zeeman, Samuel C and Mikkelsen, Teis Norgaard and Jorgensen, Rikke Bagger and Roitsch, Thomas Georg and Moller, Birger Lindberg and Braumann, Ilka
Plant and cell physiology, ISSN 0032-0781, 12/2019, Volume 60, Issue 12, pp. 2692 - 2706
Life Sciences & Biomedicine | Plant Sciences | Science & Technology | Cell Biology | Hordeum - enzymology | Hordeum - physiology | beta-Fructofuranosidase - metabolism | Hordeum - metabolism | Cell Wall - metabolism | Amylopectin - genetics | Cell Wall - enzymology | Cell Wall - physiology | Heat-Shock Response - physiology | Amylopectin - metabolism | beta-Fructofuranosidase - genetics | Index Medicus | Barley | Amylopectin | Starch | Grain filling | Regular Papers | Heat stress | Cell wall invertase
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