المؤلفون: Mignot, Cyril, McMahon, Aoife C, Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M, Hagebeuk, Eveline, Hamdan, Fadi F, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L, Miller, Kathryn, Minassian, Berge A, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R, Roume, Joelle, Rossignol, Elsa, Simon, Marleen E H, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P, van der Smagt, Jasper J, van Hasselt, Peter M, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S, Lesca, Gaetan, Helbig, Katherine L, Nabbout, Rima, Verbeek, Nienke E, Depienne, Christel

المساهمون: Genetica Klinische Genetica, Circulatory Health, Metabole ziekten patientenzorg, Child Health, Cluster C, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Genetica Groep Koeleman

مصطلحات موضوعية: epilepsy, IQSEC2, isoforms, X-linked inheritance, intellectual disability, Seizures/epidemiology, Humans, Infant, Male, Protein Isoforms/genetics, Brain Diseases/epidemiology, Guanine Nucleotide Exchange Factors/genetics, Sex Characteristics, Intellectual Disability/epidemiology, Brain/growth & development, Phenotype, Pedigree, Female, Mutation, Newborn, Genetics(clinical), Research Support, Non-U.S. Gov't, Journal Article

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/385973Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/385973Test

المؤلفون: Lal, Dennis, Reinthaler, Eva M, Altmüller, Janine, Toliat, Mohammad R, Thiele, Holger, Nürnberg, Peter, Lerche, Holger, Hahn, Andreas, Møller, Rikke S, Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz, Neubauer, Bernd A

المصدر: Lal , D , Reinthaler , E M , Altmüller , J , Toliat , M R , Thiele , H , Nürnberg , P , Lerche , H , Hahn , A , Møller , R S , Muhle , H , Sander , T , Zimprich , F & Neubauer , B A 2013 , ' RBFOX1 and RBFOX3 mutations in rolandic epilepsy ' , PLOS ONE , vol. 8 , no. 9 . https://doi.org/10.1371/journal.pone.0073323Test

مصطلحات موضوعية: Antigens, Nuclear, Epilepsy, Rolandic, Exons, Humans, Mutation, Nerve Tissue Proteins, Pedigree, RNA-Binding Proteins

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/9a8f16d4-0481-4e83-87c2-76ddc7116f2dTest

الإتاحة: https://doi.org/10.1371/journal.pone.0073323Test
https://portal.findresearcher.sdu.dk/da/publications/9a8f16d4-0481-4e83-87c2-76ddc7116f2dTest

المؤلفون: Lesca, Gaetan, Møller, Rikke S., Rudolf, Gabrielle, Hirsch, Edouard, Hjalgrim, Helle, Szepetowski, Pierre

المصدر: Lesca , G , Møller , R S , Rudolf , G , Hirsch , E , Hjalgrim , H & Szepetowski , P 2019 , ' Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations ' , Epileptic disorders : international epilepsy journal with videotape , vol. 21 , no. S1 , pp. S41-S47 . https://doi.org/10.1684/epd.2019.1056Test

مصطلحات موضوعية: childhood focal epilepsies, encephalopathy related to status epilepticus during slow sleep, epileptic-aphasia, genetics, GRIN2A, Rolandic epilepsy, Electroencephalography/methods, Mutation/genetics, Humans, Epilepsy, Rolandic/genetics, Aphasia/genetics, Receptors, N-Methyl-D-Aspartate/genetics, Pedigree, Child, Landau-Kleffner Syndrome/diagnosis

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/24295b53-a345-4241-afda-85ce600baf1fTest

الإتاحة: https://doi.org/10.1684/epd.2019.1056Test
https://portal.findresearcher.sdu.dk/da/publications/24295b53-a345-4241-afda-85ce600baf1fTest

المؤلفون: Siekierska, Aleksandra, Stamberger, Hannah, Deconinck, Tine, Oprescu, Stephanie N., Partoens, Michèle, Zhang, Yifan, Sourbron, Jo, Adriaenssens, Elias, Mullen, Patrick, Wiencek, Patrick, Hardies, Katia, Lee, Jeong-Soo, Giong, Hoi-Khoanh, Distelmaier, Felix, Elpeleg, Orly, Helbig, Katherine L., Hersh, Joseph, Isikay, Sedat, Jordan, Elizabeth, Karaca, Ender, Kecskes, Angela, Lupski, James R., Kovacs-Nagy, Reka, May, Patrick, Narayanan, Vinodh, Pendziwiat, Manuela, Ramsey, Keri, Rangasamy, Sampathkumar, Shinde, Deepali N., Spiegel, Ronen, Timmerman, Vincent, von Spiczak, Sarah, Helbig, Ingo, Weckhuysen, Sarah, Francklyn, Christopher, Antonellis, Anthony, de Witte, Peter, Partoens, Michele, Balak, Chris, Belnap, Newell, Claasen, Ana, Courtright, Amanda, de Both, Matt, Huentelman, Matthew J., Naymik, Marcus, Richholt, Ryan, Siniard, Ashley L., Szelinger, Szabolcs, Craig, David W., Schrauwen, Isabelle, Afawi, Zaid, Balling, Rudi, Baulac, Stephanie, Barisic, Nina, Caglayan, Hande S., Craiu, Dana, Guerrero-Lopez, Rosa, Guerrini, Renzo, Hjalgrim, Helle, Jahn, Johanna, Klein, Karl Martin, Leguern, Eric, Lemke, Johannes R., Lerche, Holger, Marini, Carla, Moller, Rikke S., Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose, Suls, Arvid, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Zara, Federico, De Jonghe, Peter

المساهمون: C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, HKÜ, Sağlık Bilimleri Yüksekokulu, Fizyoterapi ve Rehabilitasyon Bölümü

المصدر: Nature Communications
Nature communications
Siekierska, A, Stamberger, H, Deconinck, T, Oprescu, S N, Partoens, M, Zhang, Y, Sourbron, J, Adriaenssens, E, Mullen, P, Wiencek, P, Hardies, K, Lee, J S, Giong, H K, Distelmaier, F, Elpeleg, O, Helbig, K L, Hersh, J, Isikay, S, Jordan, E, Karaca, E, Kecskes, A, Lupski, J R, Kovacs-Nagy, R, May, P, Narayanan, V, Pendziwiat, M, Ramsey, K, Rangasamy, S, Shinde, D N, Spiegel, R, Timmerman, V, von Spiczak, S, Helbig, I, C4RCD Research Group, Møller, R S, Hjalgrim, H, AR working group of the EuroEPINOMICS RES Consortium, Weckhuysen, S, Francklyn, C, Antonellis, A, de Witte, P A M & De Jonghe, P 2019, ' Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish ', Nature Communications, vol. 10, 708 . https://doi.org/10.1038/s41467-018-07953-wTest
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Microcephaly, TRANSFER-RNA-SYNTHETASE, ILAE COMMISSION, MUTATIONS CAUSE, ONSET, GENES, HYPOMYELINATION, BIOGENESIS, PHENOTYPE, TRNA(VAL), MECHANISM, General Physics and Astronomy, 02 engineering and technology, chemistry.chemical_compound, Gene Knockout Techniques, Loss of Function Mutation, lcsh:Science, Zebrafish, Genetics, Brain Diseases, Multidisciplinary, biology, 021001 nanoscience & nanotechnology, Phenotype, 3. Good health, Pedigree, ddc, Complementation, Female, 0210 nano-technology, Engineering sciences. Technology, Valine-tRNA Ligase, In silico, Science, General Biochemistry, Genetics and Molecular Biology, Article, Cell Line, 03 medical and health sciences, Prosencephalon, medicine, Animals, Humans, Genetic Predisposition to Disease, Allele, Gene, Biology, Alleles, AR working group of the EuroEPINOMICS RES Consortium, Epilepsy, Aminoacyl tRNA synthetase, fungi, General Chemistry, Fibroblasts, biology.organism_classification, medicine.disease, Disease Models, Animal, 030104 developmental biology, chemistry, C4RCD Research Group, Neurodevelopmental Disorders, lcsh:Q, Human medicine

وصف الملف: application/pdf; pdf; Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3097b073091d6148ed9e1c5e935f26aTest
https://mediatum.ub.tum.de/1544105Test

المؤلفون: Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R

المصدر: Syrbe , S , Hedrich , U B S , Riesch , E , Djémié , T , Müller , S , Møller , R S , Maher , B , Hernandez-Hernandez , L , Synofzik , M , Caglayan , H S , Arslan , M , Serratosa , J M , Nothnagel , M , May , P , Krause , R , Löffler , H , Detert , K , Dorn , T , Vogt , H , Krämer , G , Schöls , L , Mullis , P E , Linnankivi , T , Lehesjoki ....

مصطلحات موضوعية: Adult, Amino Acid Sequence, Child, Preschool, Cohort Studies, Epilepsy, Female, Genetic Predisposition to Disease, Humans, Infant, Kv1.2 Potassium Channel, Male, Mutation, Pedigree, Spasms, Infantile, Young Adult

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/755792d5-2fc2-44f4-a596-5c5be2e88d0bTest

الإتاحة: https://doi.org/10.1038/ng.3239Test
https://portal.findresearcher.sdu.dk/da/publications/755792d5-2fc2-44f4-a596-5c5be2e88d0bTest

المؤلفون: Schubert, Julian, Siekierska, Aleksandra, Langlois, Mélanie, May, Patrick, Huneau, Clément, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid, Lemke, Johannes R, de Kovel, Carolien G F, Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R, Sander, Thomas, Rüschendorf, Franz, Caliebe, Almuth, Nagel, Inga, Kohl, Bernard, Kecskés, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H, Baulac, Stephanie, Møller, Rikke S, Hjalgrim, Helle, Koeleman, Bobby P C, Jurkat-Rott, Karin, Lehman-Horn, Frank, Roach, Jared C, Glusman, Gustavo, Hood, Leroy, Galas, David J, Martin, Benoit, de Witte, Peter A M, Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo, Balling, Rudi, Nürnberg, Peter, Crawford, Alexander D, Esguerra, Camila V, Weber, Yvonne G, Lerche, Holger

المصدر: Schubert , J , Siekierska , A , Langlois , M , May , P , Huneau , C , Becker , F , Muhle , H , Suls , A , Lemke , J R , de Kovel , C G F , Thiele , H , Konrad , K , Kawalia , A , Toliat , M R , Sander , T , Rüschendorf , F , Caliebe , A , Nagel , I , Kohl , B , Kecskés , A , Jacmin , M , Hardies , K , Weckhuysen , S , Riesch , ....

مصطلحات موضوعية: Amino Acid Sequence, Animals, Codon, Nonsense, Cohort Studies, Comparative Genomic Hybridization, Epilepsy, Exome, Female, Gene Deletion, Genetic Linkage, Humans, In Situ Hybridization, Fluorescence, Male, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Seizures, Febrile, Sequence Analysis, DNA, Syntaxin 1, Temperature, Zebrafish

الإتاحة: https://doi.org/10.1038/ng.3130Test
https://kclpure.kcl.ac.uk/portal/en/publications/9d6ba153-0bc6-4936-b0f9-ea0c6e9105dcTest

المؤلفون: Møller, Rikke S, Weber, Yvonne G, Klitten, Laura L, Trucks, Holger, Muhle, Hiltrud, Kunz, Wolfram S, Mefford, Heather C, Franke, Andre, Kautza, Monika, Wolf, Peter, Dennig, Dieter, Schreiber, Stefan, Rückert, Ina-Maria, Wichmann, H-Erich, Ernst, Jan P, Schurmann, Claudia, Grabe, Hans J, Tommerup, Niels, Stephani, Ulrich, Lerche, Holger, Hjalgrim, Helle, Helbig, Ingo, Sander, Thomas

المصدر: Møller , R S , Weber , Y G , Klitten , L L , Trucks , H , Muhle , H , Kunz , W S , Mefford , H C , Franke , A , Kautza , M , Wolf , P , Dennig , D , Schreiber , S , Rückert , I-M , Wichmann , H-E , Ernst , J P , Schurmann , C , Grabe , H J , Tommerup , N , Stephani , U , Lerche , H , Hjalgrim , H , Helbig , I , Sander , T & ....

مصطلحات موضوعية: Adult, Age of Onset, Anticonvulsants, Case-Control Studies, Cell Adhesion Molecules, Neuronal, DNA Copy Number Variations, Electroencephalography, Epilepsy, Generalized, Exons, Family, Female, Fructose, Gene Deletion, Genotype, Humans, Infant, Male, Microarray Analysis, Middle Aged, Nerve Tissue Proteins, Neuropsychological Tests, Odds Ratio, Pedigree, Triazines, Valproic Acid

الإتاحة: https://doi.org/10.1111/epi.12078Test
https://curis.ku.dk/portal/da/publications/exondisrupting-deletions-of-nrxn1-in-idiopathic-generalizedTest-epilepsy(0a401632-41f9-4d2d-8c00-8b34369b7ca9).html

المؤلفون: Leu, Costin, de Kovel, Carolien G F, Zara, Federico, Striano, Pasquale, Pezzella, Marianna, Robbiano, Angela, Bianchi, Amedeo, Bisulli, Francesca, Coppola, Antonietta, Giallonardo, Anna Teresa, Beccaria, Francesca, Trenité, Dorothée Kasteleijn-Nolst, Lindhout, Dick, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G, Becker, Felicitas, Lerche, Holger, Kleefuss-Lie, Ailing A, Hallman, Kerstin, Kunz, Wolfram S, Elger, Christian E, Muhle, Hiltrud, Stephani, Ulrich, Møller, Rikke S, Hjalgrim, Helle, Mullen, Saul, Scheffer, Ingrid E, Berkovic, Samuel F, Everett, Kate V, Gardiner, Mark R, Marini, Carla, Guerrini, Renzo, Lehesjoki, Anna-Elina, Siren, Auli, Nabbout, Rima, Baulac, Stephanie, Leguern, Eric, Serratosa, Jose M, Rosenow, Felix, Feucht, Martha, Unterberger, Iris, Covanis, Athanasios, Suls, Arvid, Weckhuysen, Sarah, Kaneva, Radka, Caglayan, Hande, Turkdogan, Dilsad, Baykan, Betul

المصدر: Leu , C , de Kovel , C G F , Zara , F , Striano , P , Pezzella , M , Robbiano , A , Bianchi , A , Bisulli , F , Coppola , A , Giallonardo , A T , Beccaria , F , Trenité , D K-N , Lindhout , D , Gaus , V , Schmitz , B , Janz , D , Weber , Y G , Becker , F , Lerche , H , Kleefuss-Lie , A A , Hallman , K , Kunz , W S , Elger , C ....

مصطلحات موضوعية: Chromosome Mapping, Chromosomes, Human, Pair 13, Pair 2, Epilepsy, Generalized, Family, Female, Genetic Linkage, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Pedigree, Phenotype

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/8a0c0fe6-8b99-428b-a630-fa94af64e271Test

الإتاحة: https://doi.org/10.1111/j.1528-1167.2011.03379.xTest
https://portal.findresearcher.sdu.dk/da/publications/8a0c0fe6-8b99-428b-a630-fa94af64e271Test

المؤلفون: de Kovel, Carolien G F, Trucks, Holger, Helbig, Ingo, Mefford, Heather C, Baker, Carl, Leu, Costin, Kluck, Christian, Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Obermeier, Tanja, Kleefuss-Lie, Ailing A, Hallmann, Kerstin, Steffens, Michael, Gaus, Verena, Klein, Karl M, Hamer, Hajo M, Rosenow, Felix, Brilstra, Eva H, Trenité, Dorothée Kasteleijn-Nolst, Swinkels, Marielle E M, Weber, Yvonne G, Unterberger, Iris, Zimprich, Fritz, Urak, Lydia, Feucht, Martha, Fuchs, Karoline, Møller, Rikke S, Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Rückert, Ina-Maria, Wichmann, Heinz-Erich, Franke, Andre, Schreiber, Stefan, Nürnberg, Peter, Elger, Christian E, Lerche, Holger, Stephani, Ulrich, Koeleman, Bobby P C, Lindhout, Dick, Eichler, Evan E, Sander, Thomas

المصدر: de Kovel , C G F , Trucks , H , Helbig , I , Mefford , H C , Baker , C , Leu , C , Kluck , C , Muhle , H , von Spiczak , S , Ostertag , P , Obermeier , T , Kleefuss-Lie , A A , Hallmann , K , Steffens , M , Gaus , V , Klein , K M , Hamer , H M , Rosenow , F , Brilstra , E H , Trenité , D K-N , Swinkels , M E M , Weber , Y ....

مصطلحات موضوعية: Adolescent, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 15, Pair 16, Cohort Studies, Epilepsy, Generalized, Female, Genetic Predisposition to Disease, Humans, Male, Pedigree, Young Adult

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/1c598aa3-9bb8-4acb-9795-a3eff304b0d4Test

الإتاحة: https://doi.org/10.1093/brain/awp262Test
https://portal.findresearcher.sdu.dk/da/publications/1c598aa3-9bb8-4acb-9795-a3eff304b0d4Test