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: Lemke, Johannes R, Lal, Dennis, Reinthaler, Eva M, Steiner, Isabelle, Nothnagel, Michael, Alber, Michael, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Finsterwalder, Katrin, Franke, Andre, Schilhabel, Markus, Jähn, Johanna A, Muhle, Hiltrud, Boor, Rainer, Van Paesschen, Wim, Caraballo, Roberto, Fejerman, Natalio, Weckhuysen, Sarah, De Jonghe, Peter, Larsen, Jan, Møller, Rikke S, Hjalgrim, Helle, Addis, Laura, Tang, Shan, Hughes, Elaine, Pal, Deb K, Veri, Kadi, Vaher, Ulvi, Talvik, Tiina, Dimova, Petia, Guerrero López, Rosa, Serratosa, José M, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Ruf, Susanne, Wolff, Markus, Buerki, Sarah, Wohlrab, Gabriele, Kroell, Judith, Datta, Alexandre N, Fiedler, Barbara, Kurlemann, Gerhard, Kluger, Gerhard, Hahn, Andreas, Haberlandt, D Edda, Kutzer, Christina, Sperner, Jürgen, Becker, Felicitas, Weber, Yvonne G, Feucht, Martha, Steinböck, Hannelore, Neophythou, Birgit, Ronen, Gabriel M, Gruber-Sedlmayr, Ursula, Geldner, Julia, Harvey, Robert J, Hoffmann, Per, Herms, Stefan, Altmüller, Janine, Toliat, Mohammad R, Thiele, Holger, Nürnberg, Peter, Wilhelm, Christian, Stephani, Ulrich, Helbig, Ingo, Lerche, Holger, Zimprich, Fritz, Neubauer, Bernd A, Biskup, Saskia, von Spiczak, Sarah

المصدر: Lemke , J R , Lal , D , Reinthaler , E M , Steiner , I , Nothnagel , M , Alber , M , Geider , K , Laube , B , Schwake , M , Finsterwalder , K , Franke , A , Schilhabel , M , Jähn , J A , Muhle , H , Boor , R , Van Paesschen , W , Caraballo , R , Fejerman , N , Weckhuysen , S , De Jonghe , P , Larsen , J , Møller , R S , Hjalgrim , H , Addis ....

مصطلحات موضوعية: Amino Acid Substitution, Epilepsies, Partial, Female, Humans, Male, Models, Molecular, Mutation, Missense, Pedigree, Protein Conformation, Receptors, N-Methyl-D-Aspartate

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/7b44525e-486a-444c-9538-eda721c8b96bTest

الإتاحة: https://doi.org/10.1038/ng.2728Test
https://portal.findresearcher.sdu.dk/da/publications/7b44525e-486a-444c-9538-eda721c8b96bTest

المؤلفون: Lemke, Johannes R, Lal, Dennis, Franke, Andre, Schilhabel, Markus, Jähn, Johanna A, Muhle, Hiltrud, Boor, Rainer, Van Paesschen, Wim, Caraballo, Roberto, Fejerman, Natalio, Weckhuysen, Sarah, De Jonghe, Peter, Reinthaler, Eva M, Larsen, Jan, Møller, Rikke S, Hjalgrim, Helle, Addis, Laura, Tang, Shan, Hughes, Elaine, Pal, Deb K, Veri, Kadi, Vaher, Ulvi, Talvik, Tiina, Steiner, Isabelle, Dimova, Petia, Guerrero López, Rosa, Serratosa, José M, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Ruf, Susanne, Wolff, Markus, Buerki, Sarah, Wohlrab, Gabriele, Kroell, Judith, Nothnagel, Michael, Datta, Alexandre N, Fiedler, Barbara, Kurlemann, Gerhard, Kluger, Gerhard, Hahn, Andreas, Haberlandt, D Edda, Kutzer, Christina, Sperner, Jürgen, Becker, Felicitas, Weber, Yvonne G, Alber, Michael, Feucht, Martha, Steinböck, Hannelore, Neophythou, Birgit, Ronen, Gabriel M, Gruber-Sedlmayr, Ursula, Geldner, Julia, Harvey, Robert J, Hoffmann, Per, Herms, Stefan, Altmüller, Janine, Geider, Kirsten, Toliat, Mohammad R, Thiele, Holger, Nürnberg, Peter, Wilhelm, Christian, Stephani, Ulrich, Helbig, Ingo, Lerche, Holger, Zimprich, Fritz, Neubauer, Bernd A, Biskup, Saskia, Laube, Bodo, von Spiczak, Sarah, Schwake, Michael, Finsterwalder, Katrin

المصدر: Nature genetics 45(9), 1067-1072 (2013). doi:10.1038/ng.2728

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Amino Acid Substitution, Epilepsies, Partial: diagnosis, Partial: genetics, Female, Humans, Male, Models, Molecular, Mutation, Missense, Pedigree, Protein Conformation, Receptors, N-Methyl-D-Aspartate: chemistry, N-Methyl-D-Aspartate: genetics, N-Methyl-D-Aspartate: metabolism, N-Methyl-D-Aspartate, N-methyl D-aspartate receptor subtype 2A

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1546-1718; info:eu-repo/semantics/altIdentifier/issn/1061-4036; info:eu-repo/semantics/altIdentifier/pmid/pmid:23933819; https://pub.dzne.de/record/137026Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-03348%22Test

الإتاحة: https://doi.org/10.1038/ng.2728Test
https://pub.dzne.de/record/137026Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-03348%22Test