المؤلفون: Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E, van Kempen, Marjan, Brilstra, Eva H, Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S, Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E, Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d'Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J, Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R, Møller, Rikke S, Baulac, Stéphanie

المصدر: Baldassari , S , Picard , F , Verbeek , N E , van Kempen , M , Brilstra , E H , Lesca , G , Conti , V , Guerrini , R , Bisulli , F , Licchetta , L , Pippucci , T , Tinuper , P , Hirsch , E , de Saint Martin , A , Chelly , J , Rudolf , G , Chipaux , M , Ferrand-Sorbets , S , Dorfmüller , G , Sisodiya , S , Balestrini , S , Schoeler , N , Hernandez-Hernandez , L , Krithika , ....

مصطلحات موضوعية: Adolescent, Brugada Syndrome/genetics, Child, Preschool, DNA Copy Number Variations/genetics, Epilepsy/complications, Female, GTPase-Activating Proteins/genetics, Genetic Predisposition to Disease, Humans, INDEL Mutation/genetics, Infant, Newborn, Loss of Function Mutation/genetics, Male, Mechanistic Target of Rapamycin Complex 1/genetics, Multiprotein Complexes/genetics, Pedigree, Repressor Proteins/genetics, Seizures/complications, Signal Transduction/genetics, Tumor Suppressor Proteins/genetics

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41436-018-0060-2Test
https://curis.ku.dk/portal/da/publications/the-landscape-of-epilepsyrelated-gator1-variantsTest(38020661-64e8-45ed-bc0c-a6ec60380e45).html
https://curis.ku.dk/ws/files/234700911/s41436_018_0060_2.pdfTest

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: Møller, Rikke S

المصدر: EuroEPINOMICS RES Consortium Autosomal Recessive working group & Møller , R S 2017 , ' Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features ' , American Journal of Human Genetics , vol. 100 , no. 4 , pp. 676-688 . https://doi.org/10.1016/j.ajhg.2017.03.001Test

مصطلحات موضوعية: Abnormalities, Multiple, Adolescent, Animals, Child, Preschool, Disease Models, Animal, Endopeptidases, Female, Gene Deletion, Humans, Intellectual Disability, Male, Mice, Pedigree, Proteasome Endopeptidase Complex, Seizures, Journal Article

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/9c047baa-c5da-4d49-98da-e3cba92b9c6eTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.03.001Test
https://portal.findresearcher.sdu.dk/da/publications/9c047baa-c5da-4d49-98da-e3cba92b9c6eTest
http://europepmc.org/articles/pmc5384096?pdf=renderTest

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: Johannesen, Katrine M, Gardella, Elena, Encinas, Alejandra C, Lehesjoki, Anna-Elina, Linnankivi, Tarja, Petersen, Michael B, Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J, Pal, Deb K, Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice, Giacomini, Thea, Helbig, Ingo, Fenger, Christina D, Sisodiya, Sanjay M, Hernandez-Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Bürki, Sarah E, Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, von Spiczak, Sarah, Hoffman-Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F, Varesio, Costanza, Veggiotti, Pierangelo, Lal, Dennis, Brünger, Tobias, Zara, Federico, Striano, Pasquale, Rubboli, Guido, Møller, Rikke S

المصدر: ISSN: 0013-9580 ; Epilepsia, vol. 60, no. 5 (2019) p. 830-844.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Anticonvulsants/therapeutic use, Ataxia/genetics, Child, Preschool, Cognitive Dysfunction/genetics, Electroencephalography, Epilepsy/drug therapy/genetics/physiopathology, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Infant, Intellectual Disability/genetics, Language Development Disorders/genetics, Movement Disorders/genetics, Muscle Hypotonia/genetics, Mutation, Missense, NAV1.6 Voltage-Gated Sodium Channel/genetics, Pedigree, Severity of Illness Index

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30968951; https://archive-ouverte.unige.ch/unige:146004Test; unige:146004

الإتاحة: https://doi.org/10.1111/epi.14705Test
https://archive-ouverte.unige.ch/unige:146004Test

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: Oliver, Karen L, Franceschetti, Silvana, Milligan, Carol J, Muona, Mikko, Mandelstam, Simone A, Canafoglia, Laura, Boguszewska-Chachulska, Anna M, Korczyn, Amos D, Bisulli, Francesca, Di Bonaventura, Carlo, Ragona, Francesca, Michelucci, Roberto, Ben-Zeev, Bruria, Straussberg, Rachel, Panzica, Ferruccio, Massano, João, Friedman, Daniel, Crespel, Arielle, Engelsen, Bernt A, Andermann, Frederick, Andermann, Eva, Spodar, Krystyna, Lasek-Bal, Anetta, Riguzzi, Patrizia, Pasini, Elena, Tinuper, Paolo, Licchetta, Laura, Gardella, Elena, Lindenau, Matthias, Wulf, Annette, Møller, Rikke S, Benninger, Felix, Afawi, Zaid, Rubboli, Guido, Reid, Christopher A, Maljevic, Snezana, Lerche, Holger, Lehesjoki, Anna-Elina, Petrou, Steven, Berkovic, Samuel F

المصدر: Oliver , K L , Franceschetti , S , Milligan , C J , Muona , M , Mandelstam , S A , Canafoglia , L , Boguszewska-Chachulska , A M , Korczyn , A D , Bisulli , F , Di Bonaventura , C , Ragona , F , Michelucci , R , Ben-Zeev , B , Straussberg , R , Panzica , F , Massano , J , Friedman , D , Crespel , A , Engelsen , B A , Andermann , F , Andermann , E , Spodar , K , Lasek-Bal , A , ....

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Ataxia, Cognitive Dysfunction, Electroencephalography, Epilepsies, Myoclonic, Female, HEK293 Cells, Hot Temperature, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Pedigree, Shaw Potassium Channels, Syndrome, Young Adult, Journal Article

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/0556080f-c5c0-4f5f-a0b6-5b26f690c837Test

الإتاحة: https://doi.org/10.1002/ana.24929Test
https://portal.findresearcher.sdu.dk/da/publications/0556080f-c5c0-4f5f-a0b6-5b26f690c837Test

المؤلفون: Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna Elina, CRISCUOLO, CHIARA, FILLA, ALESSANDRO

المساهمون: Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthia, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna Elina

مصطلحات موضوعية: Amino Acid Sequence, Amino Acid Substitution, Animal, Base Sequence, Carrier Protein, Conserved Sequence, Exome, Female, Genes, Dominant, Heat-Shock Protein, Human, Male, Molecular Sequence Data, Myoclonic Epilepsies, Progressive, Pedigree, Prion, Protein Conformation, Sequence Alignment, Sequence Homology, Amino Acid, Shaw Potassium Channel, Species Specificity, Mutation, Missense, Point Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000346990400009; volume:47; issue:1; firstpage:39-46; lastpage:46; journal:NATURE GENETICS; http://hdl.handle.net/11588/614270Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930946843

الإتاحة: https://doi.org/10.1038/ng.3144Test
http://hdl.handle.net/11588/614270Test

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