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1. 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, ISSN 0013-9580, 04/2015, Volume 56, Issue 4, pp. e36 - e39
Dravet syndrome is a severe infantile‐onset epileptic encephalopathy associated with mutations in the sodium channel alpha‐1 subunit gene SCN 1A . We aimed to... 
Epileptic encephalopathy | mutation | Severe myoclonic epilepsy in infancy | Dravet syndrome | SCN1A | SCN1A mutation | MRI | SEVERE MYOCLONIC EPILEPSY | MUTATIONS | INFANCY | CLINICAL NEUROLOGY | FEATURES | SUBUNIT | 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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2. 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
Epileptic encephalopathies are a devastating group of epilepsies with poor prognosis, of which the majority are of unknown etiology. We perform targeted... 
INTELLECTUAL DISABILITY | MICRODELETION | SEIZURES | MENTAL-RETARDATION | GENE SCN2A | EPILEPSIES | GENETICS & HEREDITY | PHENOTYPE | AUTISM SPECTRUM DISORDERS | SODIUM-CHANNEL | DELETIONS | 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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3. Full Text The incidence ofSCN1A-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, ISSN 0013-9580, 04/2015, Volume 56, Issue 4, pp. e36 - e39
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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 Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project and Epilepsy Phenome/Genome Project
The American Journal of Human Genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized... 
INTELLECTUAL DISABILITY | GRIN2A MUTATIONS | AUTISM | EPILEPSIES | GENETICS & HEREDITY | SPECTRUM DISORDERS | DYNAMIN-1 | SCHIZOPHRENIA | PATTERNS | ENDOCYTOSIS | APHASIA | 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 FRI-416-Assessment of written patient information pertaining to cirrhosis and its complications: A pilot study
by Grønkjær, Lea Ladegaard and Berg, Kirsten and Søndergaard, Rikke and Møller, Majbritt
Journal of Hepatology, ISSN 0168-8278, 04/2019, Volume 70, Issue 1, pp. e577 - e577
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6. 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
We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not... 
SCHIZOPHRENIA | SEIZURES | GENETICS & HEREDITY | 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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7. Full Text Analysis of shared heritability in common disorders of the brain
by Anttila, Verneri and Bulik-Sullivan, Brendan and Finucane, Hilary K and Walters, Raymond K and Bras, Jose and Duncan, Laramie and Escott-Price, Valentina and Falcone, Guido J and Gormley, Padhraig and Malik, Rainer and Patsopoulos, Nikolaos A and Ripke, Stephan and Wei, Zhi and Yu, Dongmei and Lee, Phil H and Turley, Patrick and Grenier-Boley, Benjamin and Chouraki, Vincent and Kamatani, Yoichiro and Berr, Claudine and Letenneur, Luc and Hannequin, Didier and Amouyel, Philippe and Boland, Anne and Deleuze, Jean-François and Duron, Emmanuelle and Vardarajan, Badri N and Reitz, Christiane and Goate, Alison M and Huentelman, Matthew J and Ilyas Kamboh, M and Larson, Eric B and Rogaeva, Ekaterina and George-Hyslop, Peter St and Hakonarson, Hakon and Kukull, Walter A and Farrer, Lindsay A and Barnes, Lisa L and Beach, Thomas G and Yesim Demirci, F and Head, Elizabeth and Hulette, Christine M and Jicha, Gregory A and Kauwe, John S.K and Kaye, Jeffrey A and Leverenz, James B and Levey, Allan I and Lieberman, Andrew P and Pankratz, Vernon S and Poon, Wayne W and Quinn, Joseph F and Saykin, Andrew J and Schneider, Lon S and Smith, Amanda G and Sonnen, Joshua A and Stern, Robert A and Van Deerlin, Vivianna M and Van Eldik, Linda J and Harold, Denise and Russo, Giancarlo and Rubinsztein, David C and Bayer, Anthony and Tsolaki, Magda and Proitsi, Petra and Fox, Nick C and Hampel, Harald and Owen, Michael J and Mead, Simon and Passmore, Peter and Morgan, Kevin and Nöthen, Markus M and Rossor, Martin and Lupton, Michelle K and Hoffmann, Per and Kornhuber, Johannes and Lawlor, Brian and McQuillin, Andrew and Al-Chalabi, Ammar and Bis, Joshua C and Ruiz, Agustin and Boada, Mercè and Seshadri, Sudha and Beiser, Alexa and Rice, Kenneth and Van Der Lee, Sven J and De Jager, Philip L and Geschwind, Daniel H and Riemenschneider, Matthias and Riedel-Heller, Steffi and Rotter, Jerome I and Ransmayr, Gerhard and Hyman, Bradley T and Cruchaga, Carlos and Alegret, Montserrat and Winsvold, Bendik and Palta, Priit and Farh, Kai-How and Cuenca-Leon, Ester and Furlotte, Nicholas and Kurth, Tobias and ... and Brainstorm Consortium and The Brainstorm Consortium
Science, ISSN 0036-8075, 06/2018, Volume 360, Issue 6395, pp. 1313 - 1313
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We... 
ANOREXIA-NERVOSA | POPULATION-BASED TWIN | DEFICIT HYPERACTIVITY DISORDER | LONG-TERM SURVIVAL | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | GENETIC CORRELATIONS | BODY-MASS INDEX | MAJOR DEPRESSIVE DISORDER | BIPOLAR DISORDER | GENOME-WIDE ASSOCIATION | Genetic Variation | Mental Disorders - genetics | Genome-Wide Association Study | Phenotype | Brain Diseases - classification | Quantitative Trait, Heritable | Brain Diseases - diagnosis | Humans | Mental Disorders - classification | Risk Factors | Brain Diseases - genetics | Mental Disorders - diagnosis | Anorexia | Disorders | Cognitive ability | Bipolar disorder | Posttraumatic stress disorder | Mental depression | Epidemiology | Risk factors | Consortia | Proteins | Ischemia | Etiology | Classification | Gilles de la Tourette syndrome | Alzheimer's disease | Neurological disorders | Neurodegenerative diseases | Comorbidity | Behavior disorders | Anorexia nervosa | Risk analysis | Patients | Neurological diseases | Correlation analysis | Heritability | Attention deficit disorder | Headache | Mental disorders | Medical services | Schizophrenia | Risk sharing | Genomes | Heterogeneity | Biological effects | Risk assessment | Stroke | Phenotypes | Migraine | Attention deficit hyperactivity disorder | Eating disorders | Personality | Genetic diversity | Statistics | Activity patterns | Crohn's Disease | Population (statistical) | Scaffolding | Diagnostic systems | Alzheimers disease | Index Medicus | Life Sciences | Human health and pathology | Mental Disorders | Neurons and Cognition | Brain Diseases | Genetics
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8. 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
Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also... 
NMDA RECEPTOR | CONTRIBUTE | SEIZURES | BENIGN | FAMILIES | GENETICS & HEREDITY | STATUS EPILEPTICUS | TERMINOLOGY | CLASSIFICATION | DISORDERS | CENTROTEMPORAL SHARP WAVES | 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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9. Full Text RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy
by Lal, Dennis and Reinthaler, Eva M and Altmüller, Janine and Toliat, Mohammad R and Thiele, Holger and Nürnberg, Peter and Lerche, Holger and Hahn, Andreas and Møller, Rikke S and Muhle, Hiltrud and Sander, Thomas and Zimprich, Fritz and Neubauer, Bernd A
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, pp. e73323 - e73323
Partial deletions of the gene encoding the neuronal splicing regulator RBFOX1 have been reported in a range of neurodevelopmental diseases, including... 
SPLICING FACTORS | SHARP WAVES | CENTROTEMPORAL SPIKES | PSEUDO-LENNOX-SYNDROME | GENE | FAMILIES | MULTIDISCIPLINARY SCIENCES | BENIGN PARTIAL EPILEPSY | PHENOTYPES | CHILDHOOD | CHILDREN | RNA-Binding Proteins - genetics | Antigens, Nuclear - genetics | Exons | Pedigree | Epilepsy, Rolandic - genetics | Humans | RNA Splicing Factors | Mutation | Nerve Tissue Proteins - genetics | Genetic aspects | Electroencephalography | Epilepsy | Risk factors | Attention deficit disorder | Alternative splicing | Nonsense mutation | Intellectual disabilities | Genomics | Genes | Parents | Families & family life | Frameshift mutation | Homology | Genomes | Single-nucleotide polymorphism | Gene deletion | Neurodevelopmental disorders | Proteins | Clonal deletion | Deletion | Children | Splicing | EEG | Excitability | Patients | Genetic variance | Autism | Neurology | Sleep | Aphasia | Index Medicus
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10. Full Text Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers
by Møller, Rikke S and Johannesen, Katrine M
Neurotherapeutics, ISSN 1933-7213, 1/2016, Volume 13, Issue 1, pp. 190 - 191
  Issue Title: Immunotherapy of Neurolgical Diseases 
Neurology | Neurosciences | Biomedicine | Neurosurgery | Neurobiology | PHARMACOLOGY & PHARMACY | NEUROSCIENCES | EPILEPTIC ENCEPHALOPATHY | CLINICAL NEUROLOGY | MUTATION | Brain Diseases | Nerve Tissue Proteins | Sodium Channel Blockers | Epilepsy | Humans | Precision Medicine | Index Medicus
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11. Full Text Spectrum of GABAA receptor variants in epilepsy
by Maljevic, Snezana and Møller, Rikke S and Reid, Christopher A and Pérez-Palma, Eduardo and Lal, Dennis and May, Patrick and Lerche, Holger
Current opinion in neurology, ISSN 1350-7540, 04/2019, Volume 32, Issue 2, pp. 183 - 190
Recent publications point to an increasingly important role of variants in genes encoding GABAA receptor subunits associated with both common and rare forms of... 
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12. Full Text De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
by Suls, Arvid and Jaehn, Johanna A and Kecskés, Angela and Weber, Yvonne and Weckhuysen, Sarah and Craiu, Dana C and Siekierska, Aleksandra and Djémié, Tania and Afrikanova, Tatiana and Gormley, Padhraig and von Spiczak, Sarah and Kluger, Gerhard and Iliescu, Catrinel M and Talvik, Tiina and Talvik, Inga and Meral, Cihan and Caglayan, Hande S and Giraldez, Beatriz G and Serratosa, José and Lemke, Johannes R and Hoffman-Zacharska, Dorota and Szczepanik, Elzbieta and Barisic, Nina and Komarek, Vladimir and Hjalgrim, Helle and Møller, Rikke S and Linnankivi, Tarja and Dimova, Petia and Striano, Pasquale and Zara, Federico and Marini, Carla and Guerrini, Renzo and Depienne, Christel and Baulac, Stéphanie and Kuhlenbäumer, Gregor and Crawford, Alexander D and Lehesjoki, Anna-Elina and de Witte, Peter A.M and Palotie, Aarno and Lerche, Holger and Esguerra, Camila V and De Jonghe, Peter and Helbig, Ingo and Hendrickx, Rik and Holmgren, Philip and Stephani, Ulrich and Muhle, Hiltrud and Pendiziwiat, Manuela and Appenzeller, Silke and Selmer, Kaja and Brilstra, Eva and Koeleman, Bobby and Rosenow, Felix and Leguern, Eric and Sterbova, Katalin and Magdalena, Budisteanu and Rodica, Gherghiceanu and Arsene, Oana Tarta and Diana, Barca and Guerrero-Lopez, Rosa and Ortega, Laura and Todorova, Albena P and Kirov, Andrey V and Robbiano, Angela and Arslan, Mutluay and Yiş, Uluç and Ivanović, Vanja and EuroEPINOMICS RES Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 967 - 975
Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline.... 
RATES | GENE | DISEASE | GENETICS & HEREDITY | PHENOTYPE | DNA-BINDING PROTEIN-2 | AUTISM SPECTRUM DISORDERS | DELETION | MEMBER | SCN1A | Humans | NAV1.1 Voltage-Gated Sodium Channel - genetics | Cognition Disorders - pathology | Intellectual Disability - pathology | Male | Zebrafish | Cognition Disorders - genetics | Epilepsies, Myoclonic - pathology | DNA-Binding Proteins - genetics | Seizures, Febrile - pathology | Gene Knockdown Techniques | Haploinsufficiency | Intellectual Disability - genetics | Exome | Young Adult | Phenotype | Animals | Seizures, Febrile - genetics | Female | Larva - genetics | Child | Cohort Studies | Epilepsies, Myoclonic - genetics | Physiological aspects | Genetic aspects | Research | Seizures (Medicine) | Gene mutations | Epilepsy | Proteins | Convulsions & seizures | Mutation | Deoxyribonucleic acid--DNA | Index Medicus | Report
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