المؤلفون: Döring, Jan H., Schröter, Julian, Jüngling, Jerome, Biskup, Saskia, Klotz, Kerstin A., Bast, Thomas, Dietel, Tobias, Korenke, G. Christoph, Christoph, Sophie, Brennenstuhl, Heiko, Rubboli, Guido, Moller, Rikke S., Lesca, Gaetan, Chaix, Yves, Kölker, Stefan, Hoffmann, Georg F., Lemke, Johannes R., Syrbe, Steffen

مصطلحات موضوعية: voltage-gated potassium channel, Kv1.2, shaker, epileptic encephalopathy, epilepsy, ataxia, info:eu-repo/classification/ddc/610, ddc:610

العلاقة: 2824

الإتاحة: https://ul.qucosa.de/id/qucosa%3A89542Test
https://ul.qucosa.de/api/qucosa%3A89542/attachment/ATT-0Test/

المؤلفون: Bayat, Allan, Iavarone, Stefano, Miceli, Francesco, Jakobsen, Anne V, Johannesen, Katrine M, Nikanorova, Marina, Ploski, Rafal, Szymanska, Krystyna, Flamini, Robert, Cooper, Edward C, Weckhuysen, Sarah, Taglialatela, Maurizio, Møller, Rikke S

المساهمون: Bayat, Allan, Iavarone, Stefano, Miceli, Francesco, Jakobsen, Anne V, Johannesen, Katrine M, Nikanorova, Marina, Ploski, Rafal, Szymanska, Krystyna, Flamini, Robert, Cooper, Edward C, Weckhuysen, Sarah, Taglialatela, Maurizio, Møller, Rikke S

مصطلحات موضوعية: Amitriptyline, Developmental encephalopathy, Gain of function, Genotype-phenotype, Voltage-gated potassium channel

العلاقة: volume:21; issue:1; numberofpages:9; journal:NEUROTHERAPEUTICS; https://hdl.handle.net/11588/958136Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185223235; https://www.sciencedirect.com/science/article/pii/S1878747923018950?via=ihubTest

الإتاحة: https://doi.org/10.1016/j.neurot.2023.10.006Test
https://hdl.handle.net/11588/958136Test
https://www.sciencedirect.com/science/article/pii/S1878747923018950?via=ihubTest

المؤلفون: Musto, Elisa, Liao, Vivian W.Y., Johannesen, Katrine M., Fenger, Christina D., Lederer, Damien, Kothur, Kavitha, Fisk, Katrina, Bennetts, Bruce, Vrielynck, Pascal, Delaby, Delphine, Ceulemans, Berten, Weckhuysen, Sarah, Sparber, Peter, Bouman, Arjan, Ardern-Holmes, Simone, Troedson, Christopher, Battaglia, Domenica I., Goel, Himanshu, Feyma, Timothy, Bakhtiari, Somayeh, Tjoa, Linda, Boxill, Martin, Demina, Nina, Shchagina, Olga, Dadali, Elena, Kruer, Michael, Cantalupo, Gaetano, Contaldo, Ilaria, Polster, Tilman, Isidor, Bertrand, Bova, Stefania M., Fazeli, Walid, Wouters, Leen, Miranda, Maria J., Darra, Francesca, Pede, Elisa, Le Duc, Diana, Jamra, Rami Abou, Küry, Sébastien, Proietti, Jacopo, McSweeney, Niamh, Brokamp, Elly, Andrews, Peter Ian, Gouray Garcia, Marie, Chebib, Mary, Møller, Rikke S., Ahring, Philip K., Gardella, Elena

المصدر: Musto , E , Liao , V W Y , Johannesen , K M , Fenger , C D , Lederer , D , Kothur , K , Fisk , K , Bennetts , B , Vrielynck , P , Delaby , D , Ceulemans , B , Weckhuysen , S , Sparber , P , Bouman , A , Ardern-Holmes , S , Troedson , C , Battaglia , D I , Goel , H , Feyma , T , Bakhtiari , S , Tjoa , L , Boxill , M , Demina , N , Shchagina , ....

العلاقة: https://pure.eur.nl/en/publications/b4e968bd-05c8-4ed0-8c6c-6dbaf8b31d0fTest

الإتاحة: https://doi.org/10.1002/ana.26774Test
https://pure.eur.nl/en/publications/b4e968bd-05c8-4ed0-8c6c-6dbaf8b31d0fTest
http://www.scopus.com/inward/record.url?scp=85174510054&partnerID=8YFLogxKTest

المؤلفون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon

المصدر: Li , D , Wang , Q , Bayat , A , Battig , M R , Zhou , Y , Bosch , D G M , van Haaften , G , Granger , L , Petersen , A K , Pérez-Jurado , L A , Aznar-Laín , G , Aneja , A , Hancarova , M , Bendova , S , Schwarz , M , Pourova , R K , Sedlacek , Z , Keena , B A , March , M E , Hou , C , O’Connor , N , Bhoj , E J , Harr ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/88c4a8ca-9fd3-465f-b4a2-f52edc3abaedTest

الإتاحة: https://doi.org/10.1172/JCI171235Test
https://pure.eur.nl/en/publications/88c4a8ca-9fd3-465f-b4a2-f52edc3abaedTest
https://pure.eur.nl/ws/files/126117603/Spliceosome_malfunction_causes_neurodevelopmental_disorders_with_overlapping_features.pdfTest
http://www.scopus.com/inward/record.url?scp=85181539861&partnerID=8YFLogxKTest

المؤلفون: Gallagher, Declan, Perez-Palma, Eduardo, Bruenger, Tobias, Ghanty, Ismael, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Moller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An-Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Zuberi, Sameer M., Lal, Dennis, Brunklaus, Andreas

المصدر: 0013-9580 ; Epilepsia

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/001177349200001

الإتاحة: https://doi.org/10.1111/EPI.17882Test
https://hdl.handle.net/10067/2048780151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:22808Test

المؤلفون: Kamand, Morad, Taleb, Reema, Wathikthinnakon, Methi, Mohamed, Fadumo Abdullahi, Ghazanfari, Said Pasalar, Konstantinov, Denis, Hald, Jonas Laugård, Holst, Bjørn, Brasch-Andersen, Charlotte, Møller, Rikke S., Lemke, Johannes R., Krey, Ilona, Freude, Kristine, Chandrasekaran, Abinaya

المصدر: Kamand , M , Taleb , R , Wathikthinnakon , M , Mohamed , F A , Ghazanfari , S P , Konstantinov , D , Hald , J L , Holst , B , Brasch-Andersen , C , Møller , R S , Lemke , J R , Krey , I , Freude , K & Chandrasekaran , A 2024 , ' Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy ' , Stem Cell Research , vol. 76 , 103372 . https://doi.org/10.1016/j.scr.2024.103372Test

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/6bfac702-e15d-414f-91fe-d9e14f147c73Test

الإتاحة: https://doi.org/10.1016/j.scr.2024.103372Test
https://portal.findresearcher.sdu.dk/da/publications/6bfac702-e15d-414f-91fe-d9e14f147c73Test
https://findresearcher.sdu.dk/ws/files/257210548/Open_Access_Version.pdfTest

المؤلفون: Lin, Susan X N, Ahring, Philip K, Keramidas, Angelo, Liao, Vivian W Y, Møller, Rikke S, Chebib, Mary, Absalom, Nathan L

المصدر: Lin , S X N , Ahring , P K , Keramidas , A , Liao , V W Y , Møller , R S , Chebib , M & Absalom , N L 2024 , ' Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity ' , Brain : a journal of neurology , vol. 147 , no. 1 , pp. 224-239 . https://doi.org/10.1093/brain/awad285Test

مصطلحات موضوعية: Animals, Humans, Infant, Newborn, Gain of Function Mutation, Mutation/genetics, Epilepsy/genetics, Seizures, Epilepsy, Generalized, Movement Disorders, Mammals/metabolism, Receptors, GABA-A/genetics

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/f55d9e3b-770d-4760-905f-91e9810efe64Test

الإتاحة: https://doi.org/10.1093/brain/awad285Test
https://portal.findresearcher.sdu.dk/da/publications/f55d9e3b-770d-4760-905f-91e9810efe64Test
https://findresearcher.sdu.dk/ws/files/252821211/awad285.pdfTest

المؤلفون: de Nys, Rebekah, van Eyk, Clare L., Ritchie, Tarin, Møller, Rikke S., Scheffer, Ingrid E., Marini, Carla, Bhattacharjee, Rudrarup, Kumar, Raman, Gecz, Jozef

المصدر: de Nys , R , van Eyk , C L , Ritchie , T , Møller , R S , Scheffer , I E , Marini , C , Bhattacharjee , R , Kumar , R & Gecz , J 2024 , ' Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy ' , Translational Psychiatry , vol. 14 , 65 . https://doi.org/10.1038/s41398-024-02783-5Test

مصطلحات موضوعية: Cadherins/genetics, Cluster Analysis, Epilepsy/genetics, Humans, Multiomics, Proteomics, Protocadherins

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/d2c35aff-2c41-473d-87b9-2e8431f4152fTest

الإتاحة: https://doi.org/10.1038/s41398-024-02783-5Test
https://portal.findresearcher.sdu.dk/da/publications/d2c35aff-2c41-473d-87b9-2e8431f4152fTest
https://findresearcher.sdu.dk/ws/files/254585901/Open_Access_Version.pdfTest

المؤلفون: Ancora, Caterina, Ortigoza‐Escobar, Juan Dario, Valletti, Margherita Aluffi, Furia, Francesca, Nielsen, Jens Erik Klint, Møller, Rikke S., Gardella, Elena

المصدر: Epileptic Disorders ; volume 26, issue 2, page 219-224 ; ISSN 1294-9361 1950-6945

الإتاحة: https://doi.org/10.1002/epd2.20203Test

المؤلفون: Amin, Sam, Møller, Rikke S., Aledo‐Serrano, Angel, Arzimanoglou, Alexis, Bager, Patrick, Jóźwiak, Sergiusz, Kluger, Gerhard Josef, López‐Cabeza, Sandra, Nabbout, Rima, Partridge, Carol‐Anne, Schubert‐Bast, Susanne, Specchio, Nicola, Kälviäinen, Reetta

المصدر: Epilepsia Open ; volume 9, issue 3, page 832-849 ; ISSN 2470-9239 2470-9239

الإتاحة: https://doi.org/10.1002/epi4.12914Test