المؤلفون: Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H.E., Bakker, D.P., Barwick, K., Bonfert, M.V., Bönnemann, C.G., Brilstra, E.H., Chung, W.K., Clarke, A.J., Devine, P., Donkervoort, S., Fraser, J.L., Friedman, J., Gates, A., Ghoumid, J., Hobson, E., Horvath, G., Keller-Ramey, J., Keren, B., Kurian, M.A., Lee, V., Leppig, K.A., Lundgren, J., McDonald, M.T., McTague, A., Mefford, H.C., Mignot, C., Mikati, M.A., Nava, C., Raymond, F.L., Sampson, J.R., Sanchis-Juan, A., Shashi, V., Shieh, J.T.C., Shinawi, M., Slavotinek, A., Stödberg, T., Stong, N., Sullivan, J.A., Taylor, A.C., Toler, T.L., van den Boogaard, M.J., van der Crabben, S.N., van Gassen, K.L.I., van Jaarsveld, R.H., Van Ziffle, J., Wadley, A.F., Wagner, M., Wigby, K., Wortmann, S.B., Zarate, Y.A., Møller, R.S., Lemke, J.R., Platzer, K.

المصدر: Genet. Med., DOI:10.1038/s41436-020-01020-w (2020)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33299146; info:eu-repo/semantics/altIdentifier/wos/WOS:000597805600001; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60808Test; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الإتاحة: https://doi.org/10.1038/s41436-020-01020-wTest
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60808Test

المؤلفون: Bosch, E., Popp, B., Güse, E., Skinner, C., Sluijs, P.J. van der, Maystadt, I., Pinto, Ameet J., Renieri, A., Bruno, L.P., Granata, S., Marcelis, C.L., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., Marco, P. De, Ognibene, M., Jamra, R.A., Platzer, K., Carter, L.B., Kuismin, O., Haeringen, A. van, Maroofian, R., Valenzuela, I., Cuscó, I., Martinez-Agosto, J.A., Rabani, A.M., Mefford, H.C., Pereira, E.M., Close, C., Anyane-Yeboa, K., Wagner, M., Hannibal, M.C., Zacher, P., Thiffault, I., Beunders, G., Umair, M., Bhola, P.T., McGinnis, E., Millichap, J., Kamp, J.M. van de, Prijoles, E.J., Dobson, A., Shillington, A., Graham, B.H., Garcia, E.J., Galindo, M.K., Ropers, F.G., Nibbeling, E.A., Hubbard, G., Karimov, C., Goj, G., Bend, R., Rath, J., Morrow, M.M., Millan, F., Salpietro, V., Torella, A., Nigro, V., Kurki, M., Stevenson, R.E., Santen, G.W.E., Zweier, M., Campeau, P.M., Severino, M., Reis, A., Accogli, A., Vasileiou, G.

المصدر: Genetics in Medicine, 25, 11, pp. 100950

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/299984/299984.pdfTest; https://repository.ubn.ru.nl/handle/2066/299984Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.100950Test
https://repository.ubn.ru.nl//bitstream/handle/2066/299984/299984.pdfTest
https://repository.ubn.ru.nl/handle/2066/299984Test

المؤلفون: Sadleir, L.G., Mountier, E.I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M.A., Mandelstam, S., Wirrell, E., Nickels, K.C., Murali, H.R., Carvill, G., Myers, C.T., Mefford, H.C., Scheffer, I.E., Study, DDD.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/134792/1/Not%20all%20SCN1A%20epileptic%20encephalopathies%20are%20Dravet%20syndrome%3A%20Early%20profound%20Thr226Met%20phenotype.pdfTest; Sadleir, L.G., Mountier, E.I., Gill, D. et al. (13 more authors) (2017) Not all SCN1A epileptic encephalopathies are Dravet syndrome. Neurology, 89 (10). pp. 1035-1042. ISSN 0028-3878

الإتاحة: https://doi.org/10.1212/WNL.0000000000004331Test
https://eprints.whiterose.ac.uk/134792Test/
https://eprints.whiterose.ac.uk/134792/1/Not%20all%20SCN1A%20epileptic%20encephalopathies%20are%20Dravet%20syndrome%3A%20Early%20profound%20Thr226Met%20phenotype.pdfTest

المؤلفون: Platzer, K., Yuan, H.M., Schütz, H., Winschel, A., Chen, W., Hu, C., Kusumoto, H., Heyne, H.O., Helbig, K.L., Tang, S., Willing, M.C., Tinkle, B.T., Adams, D.J., Depienne, C., Keren, B., Mignot, C., Frengen, E., Strømme, P., Biskup, S., Döcker, D., Strom, T.M., Mefford, H.C., Myers, C.T., Muir, A.M., Lacroix, A., Sadleir, L., Scheffer, I.E., Brilstra, E.H., van Haelst, M.M., van der Smagt, J.J., Bok, L.A., Møller, R.S., Jensen, U.B., Millichap, J.J., Berg, A.T., Goldberg, E.M., De Bie, I., Fox, S.E., Major, P., Jones, J.R., Zackai, E.H., Abou Jamra, R., Rolfs, A., Leventer, R.J., Lawson, J.A., Roscioli, T., Jansen, F.E., Ranza, E., Korff, C.M., Lehesjoki, A.E., Courage, C., Linnankivi, T., Smith, D.R., Stanley, C., Mintz, M., McKnight, D., Decker, A., Tan, W.H., Tarnopolsky, M.A., Brady, L.I., Wolff, M., Dondit, L., Pedro, H.F., Parisotto, S.E., Jones, K.L., Patel, A.D., Franz, D.N., Vanzo, R., Marco, E., Ranells, J.D., di Donato, N., Dobyns, W.B., Laube, B., Traynelis, S.F., Lemke, J.R.

المصدر: J. Med. Genet. 54, 460-470 (2017)

مصطلحات موضوعية: Channelopathy, Clustering Of Missense Variants, Epileptic Encephalopathy, Pathogenic Grin2b Mutations, Precision Medicine

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28377535; info:eu-repo/semantics/altIdentifier/wos/WOS:000403816600003; info:eu-repo/semantics/altIdentifier/isbn/0022-2593; info:eu-repo/semant; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50893Test; urn:isbn:0022-2593; urn:issn:0022-2593; urn:issn:1468-6244

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-104509Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50893Test

المؤلفون: Miceli, F., Millevert, C., Soldovieri, M.V., Mosca, I., Ambrosino, P., Carotenuto, L., Schrader, D., Lee, H.K., Riviello, J., Hong, W., Risen, S., Emrick, L., Amin, H., Ville, D. Van De, Edery, P., Bellescize, J. de, Michaud, V., Van-Gils, J., Goizet, C., Willemsen, M.H., Kleefstra, T., Møller, R.S., Bayat, A., Devinsky, O., Sands, T., Korenke, G.C., Kluger, G., Mefford, H.C., Brilstra, E., Lesca, G., Milh, M., Cooper, E.C., Taglialatela, M., Weckhuysen, S.

المصدر: Ebiomedicine, 81

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/284811/284811.pdfTest; https://repository.ubn.ru.nl/handle/2066/284811Test; https://doi.org/10.1016/j.ebiom.2022.104130Test

الإتاحة: https://doi.org/10.1016/j.ebiom.2022.104130Test
https://repository.ubn.ru.nl//bitstream/handle/2066/284811/284811.pdfTest
https://repository.ubn.ru.nl/handle/2066/284811Test

المؤلفون: Bayat, A., Valles-Ibanez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., Gorce, M., Heron, D., Hildebrand, M.S., Jezela-Stanek, A., Jouk, P.S., Keren, B., Kloth, K., Kluger, G., Kuhn, M., Lemke, J.R., Li, H., Martinez, F., Maxton, C., Mefford, H.C., Merla, G., Mierzewska, H., Muir, A., Monfort, S., Nicolai, J., Norman, J., O'Grady, G., Oleksy, B., Orellana, C., Orec, L.E., Peinhardt, C., Pronicka, E., Rosello, M., Santos-Simarro, F., Schwaibold, E.M.C., Stegmann, A.P.A., Stumpel, C.T.

المصدر: Bayat , A , Valles-Ibanez , G , Pendziwiat , M , Knaus , A , Alt , K , Biamino , E , Bley , A , Calvert , S , Carney , P , Caro-Llopis , A , Ceulemans , B , Cousin , J , Davis , S , Portes , V , Edery , P , England , E , Ferreira , C , Freeman , J , Gener , B , Gorce , M , Heron , D , Hildebrand , M S , Jezela-Stanek , A , Jouk , P S , Keren ....

مصطلحات موضوعية: congenital disorder of glycosylation, developmental and epileptic encephalopathy, epilepsy, GPI-anchoring disorder, intellectual disability, HYPOTONIA-SEIZURES SYNDROME, CONGENITAL-ANOMALIES, PRENATAL-DIAGNOSIS, MUTATION, PHENOTYPE, PROTEINS

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0Test

الإتاحة: https://doi.org/10.1111/epi.17173Test
https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0Test

المؤلفون: Knoop, M.M. van der, Maroofian, R., Fukata, Y., Ierland, Y. van, Karimiani, E.G., Lehesjoki, A.E., Muona, M., Paetau, A., Miyazaki, Y., Hirano, Y., Selim, L., Franca, M. de, Fock, R.A., Beetz, C., Ruivenkamp, C.A.L., Eaton, A.J., Morneau-Jacob, F.D., Sagi-Dain, L., Shemer-Meiri, L., Peleg, A., Haddad-Halloun, J., Kamphuis, D.J., Peeters-Scholte, C.M.P.C.D., Kurul, S.H., Horvath, R., Lochmuller, H., Murphy, D., Waldmuller, S., Spranger, S., Overberg, D., Muir, A.M., Rad, A., Vona, B., Abdulwahad, F., Maddirevula, S., Povolotskaya, I.S., Voinova, V.Y., Gowda, V.K., Srinivasan, V.M., Alkuraya, F.S., Mefford, H.C., Alfadhel, M., Haack, T.B., Striano, P., Severino, M., Fukata, M., Hilhorst-Hofstee, Y., Houlden, H.

المصدر: Brain

مصطلحات موضوعية: ADAM22, LGI1, refractory seizures, developmental and epileptic encephalopathy

وصف الملف: application/pdf

العلاقة: lumc-id: 176393367; https://hdl.handle.net/1887/3561454Test

الإتاحة: https://doi.org/10.1093/brain/awac116Test
https://hdl.handle.net/1887/3561454Test

المؤلفون: Galizia, E.C., Myers, C.T., Leu, C., de Kovel, C.G.F., Afrikanova, T., Cordero-Maldonado, M.L., Martins, T.G., Jacmin, M., Drury, S., Krishna Chinthapalli, V., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A.K., Møller, R.S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A.E., Nürnberg, P., Lerche, H., Palotie, A., Coppola, A., Striano, S., Gaudio, L.D., Boustred, C., Schneider, A.L., Lench, N., Jocic-Jakubi, B., Covanis, A., Capovilla, G., Veggiotti, P., Piccioli, M., Parisi, P., Cantonetti, L., Sadleir, L.G., Mullen, S.A., Berkovic, S.F, Stephani, U., Helbig, I., Crawford, A.D., Esguerra, C.V., Kasteleijn-Nolst Trenité, D.G.A., Koeleman, B.P.C., Mefford, H.C., Scheffer, I.E., Sisodiya, S.M.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/20704/1/20704oa.pdfTest; http://edoc.mdc-berlin.de/20704/3/20704suppl.zipTest; CHD2 variants are a risk factor for photosensitivity in epilepsy. Galizia, E.C. and Myers, C.T. and Leu, C. and de Kovel, C.G.F. and Afrikanova, T. and Cordero-Maldonado, M.L. and Martins, T.G. and Jacmin, M. and Drury, S. and Krishna Chinthapalli, V. and Muhle, H. and Pendziwiat, M. and Sander, T. and Ruppert, A.K. and Møller, R.S. and Thiele, H. and Krause, R. and Schubert, J. and Lehesjoki, A.E. and Nürnberg, P. and Lerche, H. and Palotie, A. and Coppola, A. and Striano, S. and Gaudio, L.D. and Boustred, C. and Schneider, A.L. and Lench, N. and Jocic-Jakubi, B. and Covanis, A. and Capovilla, G. and Veggiotti, P. and Piccioli, M. and Parisi, P. and Cantonetti, L. and Sadleir, L.G. and Mullen, S.A. and Berkovic, S.F and Stephani, U. and Helbig, I. and Crawford, A.D. and Esguerra, C.V. and Kasteleijn-Nolst Trenité, D.G.A. and Koeleman, B.P.C. and Mefford, H.C. and Scheffer, I.E. and Sisodiya, S.M. Brain 138 (5): 1198-1207. May 2015

الإتاحة: https://doi.org/10.1093/brain/awv052Test
http://edoc.mdc-berlin.de/20704Test/
https://edoc.mdc-berlin.de/20704Test/
http://edoc.mdc-berlin.de/20704/1/20704oa.pdfTest
http://edoc.mdc-berlin.de/20704/3/20704suppl.zipTest

المؤلفون: Stamberger, H., Hammer, T.B., Gardella, E., Vlaskamp, D.R.M., Bertelsen, B., Mandelstam, S., Lange, I. de, Zhang, J., Myers, C.T., Fenger, C., Afawi, Z., Fuerte, E.P. Almanza, Andrade, D.M., Balcik, Y., Zeev, B. Ben, Bennett, M.F., Berkovic, S.F., Isidor, B., Bouman, A., Brilstra, E., Ø, L. Busk, Cairns, A., Caumes, R., Chatron, N., Dale, R.C., Geus, C. de, Edery, P., Gill, D., Granild-Jensen, J.B., Gunderson, L., Gunning, B., Heimer, G., Helle, J.R., Hildebrand, M.S., Hollingsworth, G., Kharytonov, V., Klee, E.W., Koeleman, B.P.C., Koolen, D.A., Korff, C., Küry, S., Lesca, G., Lev, D., Leventer, R.J., Mackay, M.T., Macke, E.L., McEntagart, M., Mohammad, S.S., Monin, P., Montomoli, M., Morava, E., Moutton, S., Muir, A.M., Parrini, E., Procopis, P., Ranza, E., Reed, L., Reif, P.S., Rosenow, F., Rossi, M., Sadleir, L.G., Sadoway, T., Schelhaas, H.J., Schneider, A.L., Shah, K., Shalev, R., Sisodiya, S.M., Smol, T., Stumpel, C., Stuurman, K., Symonds, J.D., Mau-Them, F.T., Verbeek, N., Verhoeven, J.S., Wallace, G., Yosovich, K., Zarate, Y.A., Zerem, A., Zuberi, S.M., Guerrini, R., Mefford, H.C., Patel, C., Zhang, Y.H., Møller, R.S., Scheffer, I.E.

المصدر: Genetics in Medicine, 23, 2, pp. 363-373

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://hdl.handle.net/2066/231688Test

الإتاحة: https://doi.org/10.1038/s41436-020-00988-9Test
https://hdl.handle.net/2066/231688Test

المؤلفون: Carvill, G.L., Jansen, S, Lacroix, A., Zemel, M., Mehaffey, M., Vries, P.F. de, Brunner, H.G., Scheffer, I.E., Vries, B.B. de, Vissers, L.E.L.M., Mefford, H.C.

المصدر: Developmental Medicine & Child Neurology, 63, 12, pp. 1441-1447

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/243998/243998.pdfTest; https://repository.ubn.ru.nl/handle/2066/243998Test

الإتاحة: https://doi.org/10.1111/dmcn.14989Test
https://repository.ubn.ru.nl//bitstream/handle/2066/243998/243998.pdfTest
https://repository.ubn.ru.nl/handle/2066/243998Test