Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

Autor: Faravelli, Francesca, Pantaleoni, Chiara, Robert-Gnansia, Elisabeth, Cabral-Lim, Leonor, Čebular, Boštjan, De Marinis, Alejandro, Kälviäinen, Reetta, Khomeriki, Ketevan, Kiteva-Trencevska, Gordana, Kochen, Silvia, Kurthen, Martin, Luef, Gerhard, Martinez Ferri, Meritxell, Milovanović, Maja, Nakken, Karl Otto, Neufeld, Miri, Ohtani, Hideyuki, Russell, Aline, Safcák, Vladimír, Schmitz, Bettina, Specchio, Luigi Maria, Tettenborn, Barbara, van Puijenbroek, Eugene, Yu, Hsiang-Yu, Zarubova, Jana, Albretsen, Claus, Alvestad, Silje, Andersen, Noemi Becser, Antonini, Luisa, Arentsen, Jens, Aurlien, Dag, Barzinji, Ismael, Becerra Cuñat, Juan Luis, Bohorquez Morera, Natalia, Brodie, Martin J., Brodtkorb, Eylert, Broglio, Laura, Bruun Christensen, Elsebeth, Bušek, Petr, Cagnetti, Claudia, Canevini, Maria Paola, Carius, Astrid, Castro Vilanova, Maria Dolores, Cecconi, Michela, Chang, T-Y, Christensen, Jakob, De Maria, Giovanni, Dennig, Dieter, Diputado, Brenda, Ertresvåg, Janne Marit, Escartin, Toni, Flügel, Dominique, Forsom Sondal, Birgitte, Foschi, Nicoletta, Franza, Albertina, Fukushima, Katsuyuki, Gambardella, Antonio, Garamendi Ruiz, Iñigo, Gauffin, Helena, Gellert, Pia, Gjerstad, Leif, Gordon, Lisa, Haggag, Katrine, Halawa, Imad, Heikinheimo-Connell, Terttu, Hendgen, Tim, Hertz, Zarouhi, Hildenhagen, Odo, Hödl, Stephanie, Hogenesch, Ineke, Huuse Farmen, Anette, Inoue, Yushi, Juhl, Stefan, Kato, Masaaki, Kenou Van Rijckevorssel, Germaine, Kluck, E., Krijtová, Hana, Kumlien, Eva, Labate, Angelo, Lasch, Theresa, Lindsten, Hans, Listonova, Renata, Lossius, Rasmus, Lundgren, Anders, Malmgren, Kristina, Marečková, Iva, Marino, Daniela, Mattsson, Peter, McGonigal, Aileen, Miesczanleh, Katarzyna, Mizobuchi, Masahiro, Mostacci, Barbara, Müffelmann, Birgit, Navn, Uden, Nilsson, Anders, Oehl, Bernhard, Ortenzi, Andrea, Osseforth, Judith, Paggi, Aldo, Pastor, Eliana, Pedersen, Birthe, Petrenaite, Vaiva, Pignatta, Pietro, Pires, Isabel, Pistelli, Alessandra, Riuz Gimenez, Jesús Antonio, Rocchi, Raffaele, Rodam, Lone, Roivainen, Reina, Rytířová, Gisela, Samsonsen, Christian, Sansa Fayos, Gemma, Saukkonen, Anna Maija, Sikiric, Alma, Sopelana Garay, David, Steinhoff, Bernhard, Strandberg, Maria, Svendsen, Torleiv, Tauboll, Erik, Terada, Kiyohito, Trivisano, Marina, Turner, Katherine, Worm, Mogens, Zakharia, Elias, Zambrelli, Elena, Zarifi-Oskoie, Morteza, Tomson, Torbjörn, Battino, Dina, Bonizzoni, Erminio, Craig, John, Lindhout, Dick, Perucca, Emilio, Sabers, Anne, Thomas, Sanjeev V, Vajda, Frank

Publikováno v: In The Lancet Neurology June 2018 17(6):530-538

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Autor: Gardella, Elena, Becker, Felicitas, Moller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael, Thiele, Holger, Altmueller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nuernberg, Peter, Mang, Yuan, Moller, Louise Bakke, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sandor, Weber, Yvonne G.

Publikováno v: Gardella, E, Becker, F, Møller, R S, Schubert, J, Lemke, J R, Larsen, L H G, Eiberg, H, Nothnagel, M, Thiele, H, Altmüller, J, Syrbe, S, Merkenschlager, A, Bast, T, Steinhoff, B, Nürnberg, P, Mang, Y, Bakke Møller, L, Gellert, P, Heron, S, Dibbens, L, Weckhuysen, S, Dahl, H A, Biskup, S, Tommerup, N, Hjalgrim, H, Lerche, H, Beniczky, S & Weber, Y G 2016, ' Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation ', Annals of Neurology, vol. 79, no. 3, pp. 428-436 . https://doi.org/10.1002/ana.24580
Gardella, E, Becker, F, Møller, R S, Schubert, J, Lemke, J R, Larsen, L H, Eiberg, H, Nothnagel, M, Thiele, H, Altmüller, J, Syrbe, S, Merkenschlager, A, Bast, T, Steinhoff, B J, Nürnberg, P, Mang, Y, Bakke Møller, L, Gellert, P, Heron, S, Dibbens, L, Weckhuysen, S, Dahl, H A, Biskup, S, Tommerup, N, Hjalgrim, H, Lerche, H, Beniczky, S & Weber, Y G 2016, ' Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation ', Annals of Neurology, vol. 79, no. 3, pp. 428-436 . https://doi.org/10.1002/ana.24580
Annals of neurology

OBJECTIVE: Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia (PKD), and their combination - known as infantile convulsions and paroxysmal choreoathetosis (ICCA) - are related autosomal dominant diseases. PRRT2 (proline-rich

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Autor: Gardella, Elena, Beniczky, Sándor, Møller, Rikke S., Becker, Felicitas, Lemke, Johannes R., Syrbe, Steffen, Eiberg, Hans, Bast, Thomas, Steinhoff, Bernhard, Nürnberg, Peter, Gellert, Pia, Dahl, Hans Atli, Weckhuysen, Sarah, Heron, Sarah E., Dibbens, Leanne M., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne G., Beniczky, Sándor, Møller, Rikke S

Publikováno v: Annals of Neurology; Jul2016, Vol. 80 Issue 1, p168-169, 2p

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Autor: Gardella E; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark.; Institute of Regional Health Research, University of South Denmark, Odense, Denmark., Becker F; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Møller RS; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark.; Institute of Regional Health Research, University of South Denmark, Odense, Denmark., Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Lemke JR; Institute of Human Genetics, University Hospitals, University of Leipzig, Leipzig, Germany., Larsen LH; Amplexa Genetics, Odense, Denmark., Eiberg H; RC-LINK, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Nothnagel M; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Syrbe S; Department of Woman and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany., Merkenschlager A; Department of Woman and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany., Bast T; Epilepsy Center Kork, Kork, Germany., Steinhoff B; Epilepsy Center Kork, Kork, Germany., Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Mang Y; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Bakke Møller L; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark., Gellert P; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark., Heron SE; Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia., Dibbens LM; Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia., Weckhuysen S; Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Dahl HA; Amplexa Genetics, Odense, Denmark., Biskup S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Tommerup N; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Hjalgrim H; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark.; Institute of Regional Health Research, University of South Denmark, Odense, Denmark., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Beniczky S; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark.; Department of Clinical Neurophysiology, Aarhus University, Aarhus, Denmark., Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Publikováno v: Annals of neurology [Ann Neurol] 2016 Mar; Vol. 79 (3), pp. 428-36. Date of Electronic Publication: 2016 Feb 13.