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3. Form Factors of the Homogeneous Sine-Gordon models

Author

Castro-Alvaredo, O. A., Fring, A., and Korff, C.

Subjects
High Energy Physics - Theory, Condensed Matter
Abstract

We provide general determinant formulae for all n-particle form factors related to the trace of the energy momentum tensor and the analogue of the order and disorder operator in the $SU(3)_2$-homogeneous Sine-Gordon model. We employ the form factors related to the trace of the energy momentum tensor in the application of the c-theorem and find perfect agreement with the physical picture recently obtained by means of the thermodynamic Bethe ansatz. For finite resonance parameter we recover the expected WZNW-coset central charge and for infinite resonance parameter the theory decouples into two free fermions., Comment: 13 pages Latex

Published
2000
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4. Large and small Density Approximations to the thermodynamic Bethe Ansatz

Author

Fring, A. and Korff, C.

Subjects
High Energy Physics - Theory, Condensed Matter
Abstract

We provide analytical solutions to the thermodynamic Bethe ansatz equations in the large and small density approximations. We extend results previously obtained for leading order behaviour of the scaling function of affine Toda field theories related to simply laced Lie algebras to the non-simply laced case. The comparison with semi-classical methods shows perfect agreement for the simply laced case. We derive the Y-systems for affine Toda field theories with real coupling constant and employ them to improve the large density approximations. We test the quality of our analysis explicitly for the Sinh-Gordon model and the $(G_2^{(1)},D_4^{(3)})$-affine Toda field theory., Comment: 19 pages Latex, 2 figures

Published
2000
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5. Colour valued Scattering Matrices

Author

Fring, A. and Korff, C.

Subjects
High Energy Physics - Theory, Condensed Matter
Abstract

We describe a general construction principle which allows to add colour values to a coupling constant dependent scattering matrix. As a concrete realization of this mechanism we provide a new type of S-matrix which generalizes the one of affine Toda field theory, being related to a pair of Lie algebras. A characteristic feature of this S-matrix is that in general it violates parity invariance. For particular choices of the two Lie algebras involved this scattering matrix coincides with the one related to the scaling models described by the minimal affine Toda S-matrices and for other choices with the one of the Homogeneous sine-Gordon models with vanishing resonance parameters. We carry out the thermodynamic Bethe ansatz and identify the corresponding ultraviolet effective central charges., Comment: 8 pages Latex, example, comment and reference added

Published
2000
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6. Thermodynamic Bethe Ansatz of the Homogeneous Sine-Gordon models

Author

Castro-Alvaredo, O. A., Fring, A., Korff, C., and Miramontes, J. L.

Subjects
High Energy Physics - Theory, Condensed Matter
Abstract

We apply the thermodynamic Bethe Ansatz to investigate the high energy behaviour of a class of scattering matrices which have recently been proposed to describe the Homogeneous sine-Gordon models related to simply laced Lie algebras. A characteristic feature is that some elements of the suggested S-matrices are not parity invariant and contain resonance shifts which allow for the formation of unstable bound states. From the Lagrangian point of view these models may be viewed as integrable perturbations of WZNW-coset models and in our analysis we recover indeed in the deep ultraviolet regime the effective central charge related to these cosets, supporting therefore the S-matrix proposal. For the $SU(3)_k$-model we present a detailed numerical analysis of the scaling function which exhibits the well known staircase pattern for theories involving resonance parameters, indicating the energy scales of stable and unstable particles. We demonstrate that, as a consequence of the interplay between the mass scale and the resonance parameter, the ultraviolet limit of the HSG-model may be viewed alternatively as a massless ultraviolet-infrared-flow between different conformal cosets. For $k=2$ we recover as a subsystem the flow between the tricritical Ising and the Ising model., Comment: 30 pages Latex, two figures

Published
1999
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7. On the universal Representation of the Scattering Matrix of Affine Toda Field Theory

Author

Fring, A., Korff, C., and Schulz, B. J.

Subjects
High Energy Physics - Theory, Mathematics - Quantum Algebra
Abstract

By exploiting the properties of q-deformed Coxeter elements, the scattering matrices of affine Toda field theories with real coupling constant related to any dual pair of simple Lie algebras may be expressed in a completely generic way. We discuss the governing equations for the existence of bound states, i.e. the fusing rules, in terms of q-deformed Coxeter elements, twisted q-deformed Coxeter elements and undeformed Coxeter elements. We establish the precise relation between these different formulations and study their solutions. The generalized S-matrix bootstrap equations are shown to be equivalent to the fusing rules. The relation between different versions of fusing rules and quantum conserved quantities, which result as nullvectors of a doubly q-deformed Cartan like matrix, is presented. The properties of this matrix together with the so-called combined bootstrap equations are utilised in order to derive generic integral representations for the scattering matrix in terms of quantities of either of the two dual algebras. We present extensive case-by-case data, in particular on the orbits generated by the various Coxeter elements., Comment: 57 pages

Published
1999
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8. The ultraviolet Behaviour of Integrable Quantum Field Theories, Affine Toda Field Theory

Author

Fring, A., Korff, C., and Schulz, B. J.

Subjects
High Energy Physics - Theory
Abstract

We investigate the thermodynamic Bethe ansatz (TBA) equations for a system of particles which dynamically interacts via the scattering matrix of affine Toda field theory and whose statistical interaction is of a general Haldane type. Up to the first leading order, we provide general approximated analytical expressions for the solutions of these equations from which we derive general formulae for the ultraviolet scaling functions for theories in which the underlying Lie algebra is simply laced. For several explicit models we compare the quality of the approximated analytical solutions against the numerical solutions. We address the question of existence and uniqueness of the solutions of the TBA-equations, derive precise error estimates and determine the rate of convergence for the applied numerical procedure. A general expression for the Fourier transformed kernels of the TBA-equations allows to derive the related Y-systems and a reformulation of the equations into a universal form., Comment: 37 pp Latex, 5 figures

Published
1999
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9. Two-particle scattering theory for anyons

Author

Korff, C., Lang, G., and Schrader, R.

Subjects
Quantum Physics, Condensed Matter - Mesoscale and Nanoscale Physics, High Energy Physics - Theory, Mathematical Physics
Abstract

We consider potential scattering theory of a nonrelativistic quantum mechanical 2-particle system in R^2 with anyon statistics. Sufficient conditions are given which guarantee the existence of wave operators and the unitarity of the S-matrix. As examples the rotationally invariant potential well and the delta-function potential are discussed in detail. In case of a general rotationally invariant potential the angular momentum decomposition leads to a theory of Jost functions. The anyon statistics parameter gives rise to an interpolation for angular momenta analogous to the Regge trajectories for complex angular momenta. Levinson's theorem is adapted to the present context. In particular we find that in case of a zero energy resonance the statistics parameter can be determined from the scattering phase., Comment: 42 pages of RevTex and 5 figures (included)

Published
1998
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11. Symposia

Author

Correll, Christoph, Kutcher, Stanley P., McClellan, John, Buitelaar, Jan, Pappadopulos, Elizabeth, Rothenberger, Aribert, Mattejat, Fritz, Scott, Stephen, Weisz, John, Schulz, Eberhard, Felder, Wilhelm, Fleischhaker, Christian, Böhme, R., Sixt, B., Jan van der Gaag, Rutger, Katz, Laurence Y., Cox, Brian J., Gunasekara, Shiny, Miller, Alec L., Laor, Nathaniel, Riedesser, Peter, Caffo, Ernesto, Leckman, James, Ammaniti, Massimo, Nicolais, Giampaolo, Speranza, Mario, Steiner, Hans, Delizonna, Laura, Schallauer, Astrid, Thienemann, Margo, McFarlane, Alexander C., van Hooff, Miranda, Sawyer, Michael, Cianchetti, Carlo, Gaddour, Naoufel, Sana, Mokni, Anouar, Mechri, Mondher, Letaief, Lotfi, Gaha, Härtling, Fabian, Bittner, Robert, Haenschel, Corinna, Cap, Marcus, Goncharova, Tanja, Linden, David E. J., Dittmann, Ralf, Maestele, Anneliese, Mehler, Claudia, Meyer, Eberhard, Jenner, Jack A., Boeing, Leonie, Murray, Val, Pelosi, Anthony, McCabe, Robert, Blackwood, Douglas, Wrate, Robert, Pellerano, S., Pintor, M., Mellis, G. L., Piroddi, T., Flisher, Alan, Nesa, Monique, Rooney, Rosanna, Roberts, Clare, Kane, Robert, Silburn, Sven, Pike, Lisbeth, Deaton, Helge Staby, Lustig, Stuart, Funk, Michelle, Rickards, Anne, Reddihough, Dinah, Wright-Rossi, Roslyn, Simpson, Jacqui, Seuthe, Dieter David, Vielhaber, H., Orden, Kinderklinik Dritter, Backmund, H., Gerlinghoff, M., Schwab-Stone, Mary, Jespers, Ine, Vermeiren, Robert, Ruchkin, Vladislav, Blatny, Marek, Hrdlicka, Michal, Urbanek, Tomas, Jelinek, Martin, Balastikova, Veronika, Jeammet, Philippe, Frottin, Alain, Filipovic, Andjelka, Albert, Eric, Schelotto, Dora Musetti, Knezevic, Mladen, Jovancevic, Milivoj, Hill, Jonathan, Lawlor, Maria, Kienbacher, Christian, Prause, Carolin, Stöckl, Margit, Bogyi, Gertrude, Friedrich, Max H., Klein, Michael, Kürschner, Katrin, Murray, Lynne, Leidecker, Victoria, Sharp, Helen, Luoma, Ilona, Kaukonen, Pälvi, Tamminen, Tuula, Nurcombe, Barry, Martin, Graham, McDermott, Brett, Resch, Franz, Schimmelman, Benno Graf, Edwards, Jane, McGorry, Patrick D., Lambert, Martin, Conus, Philippe, Preuss, Ulrich, Bürgin, Dieter, Strauss, Monika, Parzer, Peter, Spiel, Georg, von Korff, C., Ballin, H.-A., Gößler, R., Günter, M., Sange, G., Meng, Heiner, Koch, Eginhard, Minde, Klaus, True, Mary, Pisani, L., Oumar, F., Padilla, J., Bouville, Jean-François, Vogel, Wendy, Schmeck, Klaus, Goth, Kirstin, Purper-Ouakil, Diane, Dessons, Véronique, Doyen, Catherine, Perez-Diaz, Fernando, Mouren-Simeoni, Marie-Christine, Karwautz, Andreas, Wagner, Gudrun, Schwienbacher, Klaus, Haidvogl, Maria, Nobis, Gerald, Treasure, Janet Linda, Collier, David Andrew, Brunner, Romuald, Hueg, A., Haffner, Johann, Schmid, Marc, Goldbeck, Lutz, Nützel, Jakob, Höfling, Volkmar, Schermelleh-Engel, Karin, Moosbrugger, Helfried, Tomàs, Josep, Cornellà, Josep, Llusent, Alex, Bielsa, Anna, Belfer, Myron, Robertson, Brian, Mandlhate, Custodia, Seck, Birama, Zwirs, Barbara, Burger, Huib, Schulpen, Tom, Salman Al-Obedy, A. Karem, Romanchuk, Oleh, Namyslowska, Irena, Reigstad, Björn S., Jorgensen, Kirsti Margrethe, Matthys, Walter, Lochman, John, Zonnevylle-Bender, Marjo, van de Wiel, Nicolle, Wagner, Angela, Jennen-Steinmetz, Christine, Goepel, Christopher, van Bokhoven, Irene, van Goozen, Stephanie, Franciosi, L. Patt, Acquoy, Leode Graaf, Tischlinger, Anne, Pharm, B., Bronder, Knut Halyard, Schleimer, Kari, Walter, Joachim, Ephraime, Boia, Dmitrieva, Tatjana, Silva, Alvaro Seligman, Becker, Katja, Steinhausen, Hans-Christoph, Metzke, C. Winkler, Furtado, Erikson F., Laucht, Manfred, Bilke, Oliver, Zimmermann, Petra, Wittchen, Hans-Ulrich, Lieb, Roselind, Hannesdottir, Helga, Tyrfingsson, Thorarinn, Döpfner, Manfred, Hahlweg, Kurt, Kuschel, Annett, Bertram, Heike, Heinrichs, Nina, Freund-Braier, Inez, Brix, Gabriele, Hautmann, Christopher, Pluck, Julia, Crijnen, Alfons, van Lier, Pol, Vuijk, Patricia, Frank, Reiner, Vandvik, Inger Helene, Schäfert, Rainer, van Weel, Jeanne, Schieveld, Jan, Fegert, Jörg M., Friedrich, William, Celestin-Westreich, Smadar, Celestin, Leon Patrice, Ponjaert-Kristoffersen, Ingrid, Nagao, Keizo, Kisida, M., Shindo, E., Larsen, Helmer Baying, Helweg-Larsen, Karin, Lindauer, Ramón, Booij, Jan, Olff, Miranda, den Heeten, Gerard, Gersons, Berthold, Boer, Frits, Schoentjes, Eric, Bal, Sarah, Schulte-Markwort, Michael, Solantaus, Tytti, Toikka, Sini, Alasuutari, Maarit, Steck, Barbara, Grether, Andrea, Ehrensperger, M., Amsler, Felix, Kappos, L., Saha, Rina, Paschen, Bela, Baldus, Christiane, Haagen, Miriam, Pott, Martina, Romer, Georg, Ono, Yoshiro, Homma, H., Ishida, Y., Ide, H., Okamoto, M., Kameoka, S., Nakayama, Hiroshi, Yamamoto, A., Mukaddes, Nahit Motavalli, Tyano, Sam, Mozes, Tamar, Caplan, R., Malhotra, Savita, Ledda, Maria Giuseppina, Fratta, Al, Mannino, S., Corona, Simona, Zuddas, A., Olalla, Macarena Marin, Garcia, Ruth, Ramirez, Bernardo Perez, Campion, Ross, Hindley, Peter, Gupta, Nitin, Bhattacharaya, Anish, Kapoor, Mehak, van de Willge, G., Klemm, Silke, Smesny, S., Stockebrand, M., Grunwald, S., Juffer, Femmie, van Ijzendoorn, Marinus H., Bakermans-Kranenburg, Marian J., Ziegenhain, Ute, Derksen, B., Dreisörner, R., Gutschner, Daniel, Maldonado-Duran, Martin, Ferndndez-Criado, Manuel, Heidenreich, Felicia, Moro, Marie Rose, Millhuff, Charles, Pope, Kirby, Theisen, Frank, Himmerich, Hubertus, Kraus, T., Schuld, A., Pollmächter, T., Apter, Alan, Gothelf, D., Brand-Gothelf, A., Ratzoni, Gidi, Kikinzon, L., Weizman, A., Bloch, Yuval, Haberhausen, Michael, Müller, Daniel, Fayyad, John, Filho, Altino Bessa Marques, de Menezes, Adolfo Bezerra, Campo, John, Shafer, Sheree, Strohm, Jennifer, Lucas, Amanda, Shaeffer, David, Altman, Harold, Gelachek, Christine, Motomura, Naoyasu, Takino, Yozo, Iwakiri, Masahiro, Pössel, Patrick, Seemann, Simone, Hautzinger, Martin, Mutale, Theodore, Haase, Christian, Abidi, Majid Ali, Raheem, Shehla, Faw, Leyla, Hogue, Aaron, Liddle, Howard, Catthoor, Kirsten, Hutsebaut, Joost, Jasinski, Donald, Faries, Douglas, Moore, Rodney, Streeck-Fischer, Annette, Sannwald, Renate, Barth, Gottfried Maria, Schwarz, Christoph, Staigle, Monika, Pham, Manh-Hiep, Balanzin, Dario, Materi, Joelle, Eresund, Pia, Mokhovikov, Alexander, Stankovic, Sandra, Munir, Kerim, Erol, Nese, Çetin, Füsun Çuhadarodlu, Hassiotis, Angela, Flament, Martine, Scholz, Michael, Rix, Maud, Nestler, Franziska, Selisko, Annegret, Godart, Nathalie, Perdereau, Fabienne, Rein, Zoé, Curt, Florence, Akister, Jane, Lee, Pei-Chin Peggy, Tsai, Sho-Man Susan, Ho, Lai-Shiun, Wu, Su-Chun, Miermont, Jacques, Swenson, Joel, Teherani, Mardjane, Falissard, Bruno, Cottraux, Jean, Plück, Julia, Oades, Robert, Simons-Sprong, Mirjam, Schothorst, P. F., Swaab-Barneveld, J. T., Juran, Stephanie, Weisbrod, Matthias, Chen, Eric, Röpcke, Bernd, Popovic-Deusic, Smiljka, Poustka, Luise, Wild-Wall, Nele, Papousek, Mechthilde, Keren, Mirelle, Feldman, Ruth, Maestro, S., Chilosi, A., Pecini, C., Pfanner, L., Greenhill, Laurence, Jahnsen, K., den Berg, L. T. W. Jong-van, Zito, J. M., Posner, Kelly, Skrobala, Anne, Goldberg, Pablo, Kotler, Lisa, Findling, Robert, Bussing, Regina, Sayal, Kapil, Mitchell, Geoffrey, Huss, Michael, Högl, Barbara, Grimmlinger, Renate, Käppler, Karl Christoph, Teodoro, Maycoln M. L., Oswald, Sylvia Hiromi, Dagnoni, Janine M., Pinheiro, M. I., Heleno, C. T., Rothe-Neves, R., Haase, V. G., Prette, A. Del, Lambertucci, Marimilia Rodrigues, Rodrigues, J. L., Freitas, P. M., Lourenco, C. A. P., Carvalho, H. C. W., Baumeister, J., Weisenhorn, M., Stadelmann, S., Oswald, S. H., Ruder, H., Ruggerini, Ciro, Vicini, Stefania, Pupulin, Enrico, Guidi, Antonio, Puura, Kaija, Mäntymaa, Mirjami, von Klitzing, Kai, Rosvald, Orna, Kröber, Hans-Ludwig, Stöver, A., Proske, R., Semmelbeck, Rainer, Walther, Marc, Schmelzle, Matthias, Egli-Alge, Monika, Beckett, Richard, Gerhold, Constanze, Turkmen-Barta, Lieselotte, Chiland, Colette, Meyer-Bahlburg, Heino, Ceglie, Domenico Di, Lehmkuhl, Ulrike, Uccellini, Orlando, Bertolini, Mario, Neri, Francesca, Albanese, Delia, Bertola, Raffaella, Snoek, Maartje, Kas, Martien, Schulze, Ulrike Margarete Elisabeth, Calame, Silke, Keller, Ferdinand, Santel, Stephanie, Krauel, Kerstin, Rotte, Michael, Münte, Thomas F., van Elburg, Annemarie, Poustka, Fritz, Bölte, Sven, Feineis-Matthews, Sabine, Boite, Sven, Hubl, D., Prvulovic, D., Dierks, T., Klauck, Sabine, Moilanen, Irma, Mattila, M., Laurila, J., Jussila, K., Pyper, A., Linna, S. L., Ebeling, Hanna, Pauls, D., Korpilahti, Pirjo, Loukusa, Soile, Jansson-Verkasalo, Eira, Hebebrand, Johannes, Herpertz-Dahlmann, Beate, Hinney, Anke, Wermter, Anne-Kathrin, Friedel, Susann, Geller, Frank, Schafer, Helmut, Fernandez-Aranda, Fernando, Holliday, Joanna, Holtkamp, Kristian, Mika, C., Heer, M., Uher, Rudolf, Barbarich, Nicole, Henry, Shannan E., Bailer, Ursula, Frank, Guido, Kaye, Walter H., Wentz, Elisabet, Lacey, J. Hubert, Waller, Glenn, Rastam, Maria, Turk, Jeremy, Gillberg, Christopher, Verhulst, Frank C., Zwaanswijk, Marieke, Verhaak, Peter, Bensing, Jozien, van der Ende, Jan, Verhulst, Frank, Sourander, Andre, Santalahti, Paivi, Ford, Tamsin, Goodman, Robert, Meltzer, Howard, Seiffge-Krenke, Inge, Fritsch, Richard, Cutler, Marika, Anthony, E. James, Rydelius, Per-Anders, Castell, Rolf, Pejovic-Milovancevic, Milica, Pavlovic, Miroslav, Kalman, Noa, Linder, Muli, Luria, Ido, Levkovitz, Yechiel, Yamazaki, Kosuke, da Silva, Pedro Caldeira, Santos, Grata, Martins, Filipa, Chiu, Yen-Nan, Tsai, Wen-Jer, Gau, Shur-Fen, Tseng, Chang-Chang, Su, Shu-Chen, Croonenberghs, Jan, Brouw, Lucas, Wauters, Annick, Bruning, Nicole, Manjaly, Zina, Fink, Gereon, Aleksic, Olivera, Rudic, Nenad, Jansen, Lucres, Wied, Christine C. Gispen-De, Lahuis, Bertine, Swaab, Hanna, Pietersen, Jolijn, Gevers, Carolien, Kamp-Becker, Inge, Germerott, Isabell, Howlin, Patricia, Gaudière, Forresi, Barbara, Lepri, G., Laval, Soumaila, Wiefel, Andreas, Biringen, Z., Titze, Karl, Lenz, K., Seither, C., Witte, B., Dunitz-Scheer, Marguerite, Wilken, Markus, Krasnovsky, Alexandra, Scheer, Peter, Cordeiro, Maria, Muratori, Filippo, Felloni, B., Cesari, A., Helmig, Linda, Fonagy, Peter, Moody, Chris, Fultz, Jim, Glanzmann, René, Lutz-Latil, Nathalie, van Wyl, Agnes, Puras, Dainius, Hervds, Amaia, Tsiantis, John, Dragonas, T., Davis, H., Ispanovic, V., Paradisiotou, A., Shanini, Mimoza, Jones, Lynne, Uka, A., Rrustemi, A., von Knorring, Anne-Liis, Deboutte, Dirk, Dorhmi, Souraya, Agoub, Mohamed, Moussaoui, Driss, Battas, Omar, Halvorsen, Inger, Andersen, Anne, Heyerdahl, Sonja, Baillot, Denise, La Roche, Michele, Furino, Claudia, Buchholtz, Annick, Goldfield, Gary, Henderson, Katherine, Hagenah, Ulrich, Blume, Varinja, Flacke-Redanz, Marlene, Dahlmann, Beate Herpertz, Sallas, Angelique A., Adam, Hubertus, Ephraime, Boia, Jr., Mozambique, Goci-Uka, Aferdita, Schlüter-Müller, Susanne, Bawa, Umesh, Khalik, Fakhri, Forouher, Nima, Sadamatsu, Miyuki, Nanba, Kato, Nobumasa, Kasai, Kiyoto, Nanba, Eiji, Schmidt, Martin H., Esser, Günter, van Engeland, Herman, Willemsen-Swinkels, Sophie, Dietz, Claudine, Beernink, Anne Claire, Vidojevic, Oliver, Milacic, Ivona, Strous, Rael, Hegesh, Roni, Kertzman, Simion, Ben-Nahum, Z., Kotler, Moshe, van Daalen, Emma, Zeegers, Mijke, Pol, Hilleke Hulshoff, Williams, Charles, Sank, Jessica, Paulk, Martha, Schwarz, George, Wharton, Paul, Raleva, Marija, Paketchieva, Kamka, Filipovska, Angelina, Nix, Carole Müller, Guex, Margarita Forcada, Daigham, Abdel-Mohsen, Indredavik, Marit S., Vik, Torstein, Kulseng, Siri, Brubakk, Ann-Mari, Cuddy, Marion, Riley, Katharine, Vollmer, Brigitte, Wyatt, John, Murray, Robin, Soininen, Mika, Paavonen, E. Juulia, Fjällberg, Mika, Salmi, Juha, Fredrik, Almgvist, Aronen, Eeva T., Reis, Olaf, Bohne, Stephanie P., Kraenz, Susanne, Ahn, Dong-Hyun, Kim, Tae-Ho, Choi, Jun-Ho, Kim, Yun-Young, Begovac, Ivan, Skocic, Milena, Rudan, Vlasta, Filipovic, Oleg, Wolanczyk, Tomasz, Brynska, Anita, Wojtowicz, Stanislaw, Celia, Salvador, Aerts, Cisca, Cleve, Elisabeth, Hartmann, Hellmut, Kühle, Hans-Jürgen, Heidorn, Fridjof, Zeyer, Solveigh, Fuentes, Joaquin, Martin, Andrés, Sukhodolsky, Denis G., Kaltiala-Heino, Riittakerttu, Rimpelä, Matti, Andershed, Henrik, O’Donnell, Deborah, Pearce, Michelle, Burgin, Dieter, Becker, Andreas, Hagenberg, Nicola, Berking, Matthias, Roessner, Veit, Hanssen-Bauer, Ketil, Aalen, Odd, Junglas, Jürgen, Huh, Yoon-Seok, Kim, Yun Young, Oh, Kyung-Ja, Wang, Kai, Tarren-Sweeney, Michael, Leiblum, D. M., Kühl, Renate, Nötzel, Cornelia, Pfeiffer, Ernst, Lenz, Klaus, Rosling, Agneta, Poller, Marianne, Cross, Donna, Klabin, Simone, Kaplan, Diana, Mickel, Lars, Lehmkuhl, Gerd, Möckel, Regina, Leor, Shani, Frisch, Leor, Frisch, Amos, Weizman, Abraham, Zanozin, Andrey, Jamart, Sylvie, Hayez, Jean-Yves, Leor, Agnes, Ahle, Maria Elisabeth, Amitay, Galit Ben, Kosov, Irene, Reiss, Ahuva, Tamar, Moses, Smedje, Hans, Allik, Hiie, Steyaert, Jean, Castermans, Dries, Creemers, John, Kaczynska-Haladyj, Koenraad Devriendt Marta, Ballabriga, Maria Claustre Jané, Judez, Joaquima, Pelaez, Empar, Sole, Pilar, Rodriguez, Lidia, Palmen, Saskia, Kemner, Chantal, Schnack, Hugo, Kahn, Rene, Fabrizi, Anna, Gabriel, Levi, Mercadante, Marcos, Ramos, Sergiode Paula, Rosario-Campos, Maria Concecao, Rutter, Michael, Collishaw, Stephan, Maughan, Barbara, Pickles, Andrew, Messer, Julie, Caspi, Avshalom, Moffitt, Terrie, Kreppner, Jana, Borge, Anne Inger H., Luthar, Suniya, Hamarman, Stephanie, Ulger, C., Fossella, J., Brimacombe, M., Dermody, J., Stein, Mark, Waldman, L. D., Sarampote, C., Robb, A., Cook, E. H., Kirley, Aiveen, Lowe, N., Hawi, Z., Mullins, C., Daly, G., Waldman, I., McCarro, M., O’Donell, van der Meulen, Emma, Bakker, S. C., Pauls, D. L., Sinke, R. J., Polanczyk, Guilherme, Zeni, C., Genro, J. P., Roman, Tatiana, Hutz, Mara, Schaff, Christa, Haemmerle, Patrick, Sontag, Harald, Vetro, Agnes, Gadoros, Julia, Roosen-Runge, Gotthard, Hattab, Jocelyn, Hummel, Peter, Braun-Lewensohn, Orna, Schechter, Daniel, Zeanah, Charles, Myers, Michael, Liebowitz, Michael, Davies, Mark, Soong, Wei-Tsuen, James, Deborah, Sofroniou, Nick, Gegelashvili, Marine, Parikh, Umesh, Kane, John M., Malhotra, Anil K., Shah, Manoj, Pleak, Richard R., Hizami, Ronen, Michelson, David, Danckaerts, Marina, Zuddas, Alessandro, Zhang, Shuyu, Hazell, Philip, Zeiner, P., Johnson, M., Häßler, Frank, Suyash, Prasad, Sonuga-Barke, Edmund, Poole, Lynne, Mares, Sarah, Jureidini, Jon, Steel, Zachary, Newman, Louise, Lucas, Torsten, Paulus, Stephanie, Aßhauer, Martin, Miller, Birgit, Björn, Gunilla Jarkman, Bodén, Christina, Gustafsson, Per, Ivkic, Viola Povse, Tenjovic, Lazar, Jelena, Radosavljev, Deusic, Smiljka Popovic, Graham, Philip, Klasen, Henrikje, Tan, Jacinta, Hope, Tony, Stewart, Anne, Fitzpatrick, Raymond, Kölch, Michael, Diaz-Caneja, Angeles, Johnson, Sonia, Dippold, Ines, Keller, Katja Wiethoffi Ferdinand, Bailey, Sue, Whittle, Nathan, Hennighausen, Klaus, Kohls, Gregor, Maas, Verena, Rinker, Tanja, Zachau, Swantje, Christmann, Gabriele, Jaremkiewicz, Anna, Schecker, Michael, von Suchodoletz, Waldemar, Uwer, Ruth, Albrecht, Ronald, Glass, Lisa, Csépe, Valéria, Honbology, Ferenc, Rago, Anett, Mészdros, Eva, Schwartz, Richard G., Shafer, Valerie L., Green, Jonathan, Jacobs, C., Kroll, L., Briskman, J., Dunn, G., Beecham, J., Tobias, B., Baird, L., Ogden, Terje, Fitzgerald, Michael, Bellgrove, Mark, Gill, Michael, Robertson, Ian H., McArdle, Paul, Burke, Amanda, Hong, K. Michael, Hoven, Christina, Wasserman, Danuta, Braun, Katharina, Bock, Jórg, Helmecke, Carina, Gruß, Michael, Poeggel, Gerd, Marsden, Charles, Muchimapura, S., Pardon, M.-C., Bianchi, M., Feldon, Joram, Rüedi-Bettschen, Daniela, Dettling, Andrea C., Pryce, Christopher R., Clement, Hans-Willi, Sommer, O., Pschibul, A., Rombach, C., Gerlach, M., Mehler-Wex, Claudia, Zeiske, S., Grünblatt, E., Gille, G., Rausch, D., Gerlach, Manfred, El-Din, Amira Seif, Kadri, Nadia, Andaloussi, Houda Hjiej, Chihabeddine, Khadija, Almaqrami, Mohammed, von Gontard, Alexander, Okuno, M., Quaschner, Kurt, Bilenberg, Niels, Obel, Carsten, Henriksen, Tine Brink, Hedegaard, Morten, Secher, Niels Jurgen, Olsen, Jorn, Fonseca, Antonio, Koch, Isabelle Nathalie, Bite, Ieva, Cohen, Phyllis, Russell, Katrin, Broyden, Nichaela, Lancaster, Gillian, Eichhorn, Christina, Tiedtke, Karola, Feldman, Ronald, Warnke, Andreas, Scheuerpflug, Peter, Vetter, V., Bartling, Jürgen, Konrad, Kerstin, Neufang, Susanne, Hanisch, Charlotte, Fink, Gereon R., Durston, Sarah, Davidson, Matthew C., Tottenham, Nim, Spicer, Julie, Galvan, Adriana, Horvitz, John, Fossella, John A., Watts, Richard, Casey, B. J., Brandeis, Daniel, Fallgatter, Andreas J., Ehlis, Ann-Christine, Seifert, Jürgen, Strik, W. K., Zillessen, K. E., Herrmann, Martin J., Schulte-Körne, Gerd, Lyytinen, Heikki, Guttorm, Tomi, Poikkeus, Anna-Maija, Eklund, Kenneth M., Lyytinen, Paula, Torppa, Minna, Laakso, M.-L., Leskinen, E., Tolvanen, A., Paracchini, Silvia, Schumacher, J., König, I. R., Libertus, Claudia, Griesemann, Heide, Kleensang, A., Ziegler, A., Propping, P., Näthen, M., Wolmer, Leo, Zagout, Iyad, Galili-Weisstub, Esti, Fisch, Gene, Swillen, Ann, Vogels, Annick, Freitag, Christine, Bouville, Jean-Francois, Atlanti-Duault, Laetitia, Baubet, Thierry, Osrow, Robyn, Leplomb, Marie-Madeleine, Marchandy, Yves, Bennabi, Malika, Halpern, Ricardo, Monteiro, Odon, Durkin, Abbey-Robin, Haapanen, Rudy, Bauer, Susanne, Friedrich, Max, Stadler, Christina, Sterzer, Philipp, Kleinschmidt, Andreas, Nowraty, Irene, Müller, W. E., Knölker, Ulrich, Schmid, Gabriele, Berndt, Swantje, Behn, B., Puls, Jan Hendrik, Stevens, Luc, Jungmann, Joachim, Juretic, Zoran, Ercegovic, Nela, Schepker, Renate, Çuhadaroglu-Çetin, Füsun, Herhaus, G., Melfsen, S., Cheng, Daomeng, Harder, Donald, Laws, Harry, Nakane, Yoshibumi, Takeshita, Kenzo, Naruse, Hiroshi, Zhu, Yan, Liu, Jun, Du, Yasong, Sikorski, John, Hamerlynck, Sannie, Hart, Lisettet, Nauta-Janssen, Lucres, Chitsabesan, Prathiba, Nguyen, Hien, Simeon, Jovan, Cuzner, Cathy, Schachter, Howard, Martins, Ana Soledade, Kieling, Chirstian, Comassetto, Julia, Goncalves, Renata, Oswald, Silvia, Buchmann, Johannes, Kirschner, J., Garvey, M., Moll, Gunther, Heinrich, Hartmut, Malhotra, Sameer, Poulakis, Zeffie, Menahem, Sam, Sauer, Karin, Samia, Tilouch, Rimeh, Hannachi, Sonia, Missaoui, Allodi, Mara Westling, Biscaldi, Monica, Wagner, Bettina, Uchida, Chiyoko, Jozefiak, Thomas, Penge, Roberta, Biaggini, Valentina Ivancich, Fischbein, Siv, Joukamaa, Matti, Taanila, Anja, Veijola, Juha, Karvonen, Juha T., Miettunen, Jouko, Llaberia, Edelmira Domenech, Domenech, Teresa Corbella, Ballabriga, Maria Claustre Jane, Sanz, Josepa Canals, Esparo, Griselda, Sola, Sergi Ballespi, Liu, Xuejun, Kano, Yukiko, Ohta, Masataka, Nagai, Yoko, Arai, Takashi, Linyan, Su, Bridge, Jeff, Birmaher, Boris, Di Lorenzo, Carlo, Iyengar, Satish, Brent, David, Blanz, Bernhard, Weninger, Laura, Libal, Gerhard, Skrabal, Anna, Bowden, Michael, Cooper, Howard, Simonsen, Inger, Bechstrom, Carl, Medby, Mette, Erkolahti, Ritva, Klosinski, Gunther, Oba, Mihoko, Murase, Satomi, Murakami, Takashi, Takai, Jiro, Kaneko, Hitoshi, Honjo, Shuji, Rickards, Katrina, Weber, Annhild, Karle, Michael, Lazartigues, Alain, Planche, Pascale, Lemonnier, Eric, Pavuluri, Mani, Schenkel, Lindsay, Shaw, Ryan, Sweeny, John, Rigon, Giancarlo, Costa, Stefano, Mancaruso, Alessandra, Mansi, Roberta, Poggioli, Daniele Giovanni, Chiodo, Simona, Radobuljac, Maja, Groleger, Urban, Ovsenik, Nada, Tomori, Martina, Haas, Barbara, Denoix, Susanne, Kimmig, Franz, Weinhardt, Marc, Schmitz, Günter, Filschke, Berit, Fliegauf, Conny, Kim, Ji-Hae, Krischer, Maya, Stone, Michael H., Sevecke, Kathrin, Doepfner, Manfred, König, Cornelia, Grasmann, Dörte, Schlander, Michael, Ralston, Stephen, Pereira, R. Rodrigues, Brussel, W., Vlasveld, L., Tuynman-Qua, H. G., Lorenzo, M. J., Tauscher-Wisniewski, R., Palazzi, Stefano, Guaia, Ettore, Kolakowski, Artur, Pisula, Agnieszka, Wilens, Timothy, Banaschewski, Tobias, Uebel, Henrik, Albrecht, Björn, Robatzek, Monika, Migliaccio-Walle, Kristen, Caro, Jaime, Allen, Albert J., Sangal, R. Bart, Owens, Judith, Kelsey, Douglas, Sutton, Virginia, Schuh, Kory, Bahadir, Aliye Tugba, Yaman, Zeynep, Arman, Ayse Rodopman, Kuscu, Kemal, Yazgan, Yanki, Berkem, Meral, Feldman, Peter, Denai, Milton, Simpson, Alexander, Kratochvil, Christopher, Newcorn, Jeffrey, Biederman, Joseph, Gelowitz, Douglas, Thomason, Christine, Gao, Haitao, Bijttebier, Patricia, Decoene, Steff, Niklaus, Pia, Duits, Nils, Auer, Ulrich, Schnoor, Kathleen, Schläfke, Detlef, Çetin, Füsun Çuhadaroälu, Harper, Gordon, Hamdan, Sami, El-Haib, Muhammed, Canat, Saynur, Halfon, Olivier, Bolognini, Monique, Plancherel, B., Phan, Olivier, Corcos, Maurice, Cardinaux, Jean-René, Magistretti, Pierre J., Pierrehumbert, Blaise, Koskinen, Minna, Engqvist, Ulf, Allin, Matthew, Rifkin, Larry, Lancaster, Sandra, Borghini, Ayala, Jaugey, Laure, Forcada-Guex, Margarita, Jaunin, Lyne, Müller-Nix, Carole, Ansermet, François, Simoes, Mariada Conceicao Taborda, Lima, Luiza Nobre, Dias, Mariada Luz Vale, Siefen, Rainer Georg, Como, Ariel, Alikaj, Valbona, Tomori, Sonila, Capozzi, Flavia, Romano, Angela, Roello, Mara, Piperno, Francesca, Mann, Mali A., Stösser, Dieter, Barth, Gottfried, Pimenov, Alina, Schwab, Jenny, Bingöl, Hülya, Barbe, Rémy, Elkshishy, Heba, Jovanovic, Ana, Lakic, Aneta, Milovanovic, Vesna, Vukasinovic, Milorad, Bridge, Jeffrey, Kolko, David, Brent, David A., Gilson, Kathryn, Montague, Roslyn, Shochet, Ian, Marques, Cristina Maria Ribeiro, Cepeda, Teresa, Ligges, Carolin, Ligges, Marc, Huonker, Ralph, Leppänen, Paavo, Guttorm, Torni K., Hämäläinen, Jarmo, Puolakanaho, Anne, Plume, Ellen, König, Inke R., Deimel, Wolfgang, Nöthen, Markus M., Propping, Peter, Kleensang, André, Müller-Myhsok, Bertram, Ziegler, Andreas, Hong, Sung-Do David, Gao, Xueping, Li, Xuerong, Lee, Soyoung Irene, Kim, Eui-Jung, Cho, In-Hee, Kim, Ji-Hoon, Park, Se-Hyun, Choi, J-Wook, Heger, Steffen, Schreiner, Andreas, Rettig, Klaus, Medori, Rossella, Gustafsson, Peik, Hansson, Kjell, Eidevall, Lena, Thernlund, Gunilla, Heiser, Philip, Dempfle, A., Smidt, Judith, Grabarkiewicz, Justyna, Kiefl, Hans, Hemminger, U., Saar, K., Swanson, James, Volkov, Nora D., Gupta, S., Williams, L., Agler, D., Wasdell, M., Wigal, S., Martins, Silvia, Tramontina, Silza, Eizirik, Mariana, Vitiello, Benedetto, Clevenger, Walter, Faraone, Stephen, McGough, James, McCracken, James, Rohde, Luis Augusto, Greenhill, Larry, Leary, Michael, Larsson, Bo, Gunning, W. Boudewijn, Villat, Jean-Marie, O’Connell, Redmond, Bellgrove, Mark A., Dockree, Paul, Traube, Raymond, Braunschweig, Mary, Chabanier, Jacques, De Leo, Germana, Ibanez, Margerita, Mikolajaks, Olivette, Ropstad, Ida, Young, J. Gerald, Aiello, Rachele, Porcari, Viviana, Salatiello, Maria Patrizia, Lo Bue, Anna, Dell’Oglio, Valentina, Cardella, Rosaria, Chifari, Sabrina, Undheim, Anne Mari, Su, Linyan, Luo, Xuerong, Barton, Joanne, Baying, Lioba, Rellum, Thomas, Duezel, Emrah, Hinrichs, Hermann, Bartel, Christoph, Linde, Iris, Friederichs, E., Bangs, Mark, Remschmidt, Helmut, Doreleijers, Theodore, Rebernig, Elisabeth, Camerini, Giovanni Battista, Otero, Soraya, Rivas, Ana, Pombo, Guadalupe, Yeghiyan, Maruke, Kachatur, Gasparyan, Danileyan, Arman, Ivarsson, Tord, Valderhaug, Robert, Walitza, Susanne, Wewetzer, Christoph, Barth, Nikolaus, Hahn, F., Asbahr, Fernando, Castillo, Ana Regina, Ito, Ligia, Latorre, Mariado Rosario, Moreira, Michelle, Lotufo-Neto, Francisco, Symann, Sophie, Charlier, Dominique, Plattner, Belinda, Schallauer, Astrid Elisabeth, Mohler, Beat, Staub, P., Müller, Carsten, Oelkers-Ax, Rieke, Fischer, Jochen, Hermanns, Uta, Nickel, Anne, Bolay, Hans Volker, Cherro-Aguerre, Miguel, Sorensen, Merete Juul, Nissen, Judith Becker, Mors, Ole, Thomsen, Per Hove, Sund, Anne Mari, Drugli, May Britt, Wichstrom, Lars, Schwannauer, Matthias, Taylor, Emily, Wrate, Rob, Martin, Matthias, Larsson, Jan-Olov, Larsson, Henrik, Lichtenstein, Paul, Ludolph, Andrea G., Mottaghy, Felix, Kraemer, Susanne, Claus, Dieter, Krause, Bernhard, Fegert, Jbrg M., Hurtig, Tuula, Malakhova, Anna, Maniadaki, Katerina, Kakouros, Efthymios, Jensen, Peter, Garcia, Joe Albert, Glied, Sherry, Crowe, Maura, Foster, E. Michael, Golse, Bernard, Junghanß, Jenny, Salin, Aino-Maija, Rytölä, Päivi, Hiltunen, Pauliina, Remschmidt, Helmut, editor, and Belfer, Myron L., editor

Published
2004
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12. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Author

Stamberger, H, Crosiers, D, Balagura, G, Bonardi, CM, Basu, A, Cantalupo, G, Chiesa, V, Christensen, J, Dalla Bernardina, B, Ellis, CA, Furia, F, Gardiner, F, Giron, C, Guerrini, R, Klein, KM, Korff, C, Krijtova, H, Leffner, M, Lerche, H, Lesca, G, Lewis-Smith, D, Marini, C, Marjanovic, D, Mazzola, L, Ruggiero, SM, Mochel, F, Ramond, F, Reif, PS, Richard-Mornas, A, Rosenow, F, Schropp, C, Thomas, RH, Vignoli, A, Weber, Y, Palmer, E, Helbig, I, Scheffer, IE, Striano, P, Moller, RS, Gardella, E, Weckhuysen, S, Stamberger, H, Crosiers, D, Balagura, G, Bonardi, CM, Basu, A, Cantalupo, G, Chiesa, V, Christensen, J, Dalla Bernardina, B, Ellis, CA, Furia, F, Gardiner, F, Giron, C, Guerrini, R, Klein, KM, Korff, C, Krijtova, H, Leffner, M, Lerche, H, Lesca, G, Lewis-Smith, D, Marini, C, Marjanovic, D, Mazzola, L, Ruggiero, SM, Mochel, F, Ramond, F, Reif, PS, Richard-Mornas, A, Rosenow, F, Schropp, C, Thomas, RH, Vignoli, A, Weber, Y, Palmer, E, Helbig, I, Scheffer, IE, Striano, P, Moller, RS, Gardella, E, and Weckhuysen, S

Abstract

BACKGROUND AND OBJECTIVES: Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, the presence of movement disorders, and the level of functional (in)dependence. METHODS: In this observational study, patients with a minimum age of 18 years carrying a (likely) pathogenic STXBP1 variant were recruited through medical genetics departments and epilepsy centers. Treating clinicians completed clinical questionnaires and performed semistructured video examinations while performing tasks from the (modified) Unified Parkinson Disease Rating Scale when possible. RESULTS: Thirty adult patients were included for summary statistics, with video recordings available for 19 patients. The median age at last follow-up was 24 years (range 18-58 years). All patients had epilepsy, with a median onset age of 3.5 months. At last follow-up, 80% of adults had treatment-resistant seizures despite long periods of seizure freedom in 37%. Tonic-clonic, focal, and tonic seizures were most frequent in adults. Epileptic spasms, an unusual feature beyond infancy, were present in 3 adults. All individuals had developmental impairment. Periods of regression were present in 59% and did not always correlate with flare-ups in seizure activity. Eighty-seven percent had severe or profound intellectual disability, 42% had autistic features, and 65% had significant behavioral problems. Video examinations showed gait disorders in all 12 patients able to walk, including postural abnormalities with external rotation of the feet, broad-based gait, and asymmetric posture/dystonia. Tremor, present in 56%, was predominantly of the intention/action type. Stereotypies were seen in 63%. Functional outcome concerning mobility was variable ranging from independent walking (50%) to wheelchair dependence (39%). Seventy-one percent of adults were nonverbal, and all were

Published
2022

15. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Author

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., 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., and Scheffer, I.E.

Abstract

Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access), PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy. METHODS: Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy. RESULTS: Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidities. Generalized seizures predominated including myoclonic seizures and absence seizures (both 46/70, 66%), absence with eyelid myoclonia (17/70, 24%), and atonic seizures (30/70, 43%). Males had more severe developmental impairment; females had epilepsy more frequently, and varied from unaffected to severely affected. All NEXMIF pathogenic variants led to a premature stop codon or were deleterious structural variants. Most arose de novo, although X-linked segregation occurred for both sexes. Somatic mosaicism occurred in two males and a family with suspected parental mosaicism. CONCLUSION: NEXMIF encephalopathy is an X-linked, generalized developmental and epileptic encephalopathy characterized by myoclonic-atonic epilepsy overlapping with eyelid myoclonia with absence. Some patients have developmental encephalopathy without epilepsy. Males have more severe developmental impairment. NEXMIF encephalopathy arises due to loss-of-function variants.

Published
2021

16. De novo variants in neurodevelopmental disorders with epilepsy

Author

Heyne, H. O., Singh, T., Stamberger, H., Abou Jamra, R., Caglayan, H., Craiu, D., De Jonghe, P., Guerrini, R., Helbig, K. L., Koeleman, B. P. C., Kosmicki, J. A., Linnankivi, T., May, P., Muhle, H., Moller, R. S., Neubauer, B. A., Palotie, A., Pendziwiat, M., Striano, P., Tang, S., Wu, S., Afawi, Z., De Kovel, C., Dimova, P., Djemie, T., Endziniene, M., Hoffman-Zacharska, D., Jahn, J., Korff, C., Lehesjoki, A. -E., Marini, C., Muller, S. H., Pal, D., Schwarz, N., Selmer, K., Serratosa, J., Stephani, U., Sterbova, K., Suls, A., Syrbe, S., Talvik, I., Von Spiczak, S., Zara, F., Poduri, A., Weber, Y. G., Weckhuysen, S., Sisodiya, S. M., Daly, M. J., Helbig, I., Lal, D., Lemke, J. R., Children's Hospital, Lastenneurologian yksikkö, Clinicum, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Research Programme for Molecular Neurology, Neuroscience Center, HUS Children and Adolescents, Genomics of Neurological and Neuropsychiatric Disorders, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], University of Luxembourg: High Performance Computing - ULHPC [research center], Korff, Christian, and EuroEPINOMICS RES Consortium

Subjects
Exome/genetics, Male, 0301 basic medicine, ILAE COMMISSION, Joint analysis, Neurodevelopmental Disorders/genetics, Bioinformatics, Epilepsy/genetics, Epilepsy, 0302 clinical medicine, Intellectual disability, SEQUENCE VARIANTS, Missense mutation, Epilepsy is a frequent feature, Exome, TERMINOLOGY, Disease gene, 0303 health sciences, ddc:618, medicine.diagnostic_test, Genetic Predisposition to Disease/genetics, Neurodevelopmental disorders, 1184 Genetics, developmental biology, physiology, HUMAN-DISEASE, PREVALENCE, 3. Good health, Genetic Variation/genetics, De novo variants, Female, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Genetic Testing/methods, Disease Association, Biology, CLASSIFICATION, 03 medical and health sciences, Intellectual Disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Limited evidence, 030304 developmental biology, Genetic testing, business.industry, MUTATIONS, AUTISM SPECTRUM DISORDER, Genetic Variation, medicine.disease, Intellectual Disability/genetics, 030104 developmental biology, Neurodevelopmental Disorders, epilepsy, KCNQ2 ENCEPHALOPATHY, Human medicine, 3111 Biomedicine, business, Genetic diagnosis, 030217 neurology & neurosurgery
Abstract

Epilepsy is a frequent feature of neurodevelopmental disorders (NDD) but little is known about genetic differences between NDD with and without epilepsy. We analyzed de novo variants (DNV) in 6753 parent-offspring trios ascertained for different NDD. In the subset of 1942 individuals with NDD with epilepsy, we identified 33 genes with a significant excess of DNV, of which SNAP25 and GABRB2 had previously only limited evidence for disease association. Joint analysis of all individuals with NDD also implicated CACNA1E as a novel disease gene. Comparing NDD with and without epilepsy, we found missense DNV, DNV in specific genes, age of recruitment and severity of intellectual disability to be associated with epilepsy. We further demonstrate to what extent our results impact current genetic testing as well as treatment, emphasizing the benefit of accurate genetic diagnosis in NDD with epilepsy.

Published
2018

20. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Author

Knaus, A. (Alexej), Pantel, J.T. (Jean Tori), Pendziwiat, M. (Manuela), Hajjir, N. (Nurulhuda), Zhao, M. (Max), Hsieh, T.-C. (Tzung-Chien), Schubach, M. (Max), Gurovich, Y. (Yaron), Fleischer, N. (Nicole), Jäger, M. (Marten), Köhler, S. (Sebastian), Muhle, H. (Hiltrud), Korff, C. (Christian), Møller, R.S. (Rikke S.), Bayat, A. (Allan), Calvas, P. (Patrick), Chassaing, N. (Nicolas), Warren, H. (Hannah), Skinner, S. (Steven), Louie, R. (Raymond), Evers, C. (Christina), Bohn, M. (Marc), Christen, H.-J. (Hans-Jürgen), Born, M. (Myrthe) van den, Obersztyn, E. (Ewa), Charzewska, A. (Agnieszka), Endziniene, M. (Milda), Kortüm, F. (Fanny), Brown, N. (Natasha), Robinson, P.N. (Peter N.), Schelhaas, H.J. (Helenius), Weber, Y. (Yvonne), Helbig, I. (Ingo), Mundlos, S. (Stefan), Horn, D. (Denise), Krawitz, P., Knaus, A. (Alexej), Pantel, J.T. (Jean Tori), Pendziwiat, M. (Manuela), Hajjir, N. (Nurulhuda), Zhao, M. (Max), Hsieh, T.-C. (Tzung-Chien), Schubach, M. (Max), Gurovich, Y. (Yaron), Fleischer, N. (Nicole), Jäger, M. (Marten), Köhler, S. (Sebastian), Muhle, H. (Hiltrud), Korff, C. (Christian), Møller, R.S. (Rikke S.), Bayat, A. (Allan), Calvas, P. (Patrick), Chassaing, N. (Nicolas), Warren, H. (Hannah), Skinner, S. (Steven), Louie, R. (Raymond), Evers, C. (Christina), Bohn, M. (Marc), Christen, H.-J. (Hans-Jürgen), Born, M. (Myrthe) van den, Obersztyn, E. (Ewa), Charzewska, A. (Agnieszka), Endziniene, M. (Milda), Kortüm, F. (Fanny), Brown, N. (Natasha), Robinson, P.N. (Peter N.), Schelhaas, H.J. (Helenius), Weber, Y. (Yvonne), Helbig, I. (Ingo), Mundlos, S. (Stefan), Horn, D. (Denise), and Krawitz, P.

Abstract

Background: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS). However, the increasing number of individuals with a GPIBD shows that hyperphosphatasia is a variable feature that is not ideal for a clinical classification. Methods: We studied the discriminatory power of multiple GPI-linked substrates that were assessed by flow cytometry in blood cells and fibroblasts of 39 and 14 individuals with a GPIBD, respectively. On the phenotypic level, we evaluated the frequency of occurrence of clinical symptoms and analyzed the performance of computer-assisted image analysis of the facial gestalt in 91 individuals. Results: We found that certain malformations such as Morbus Hirschsprung and diaphragmatic defects are more likely to be associated with particular gene defects (PIGV, PGAP3, PIGN). However, especially at the severe end of the clinical spectrum of HPMRS, there is a high phenotypic overlap with MCAHS. Elevation of AP has also been documented in some of the individuals with MCAHS, namely those with PIGA mutations. Although the impairment of GPI-linked substrates is supposed to play the key role in the pathophysiology of GPIBDs, we could not observe gene-specific profiles for flow cytometric markers or a correlation between their cell surface levels and the severity of the phenotype. In contrast, it was facial recognition software that achieved the highest accuracy in predicting the disease-causing gene in a GPIBD. Conclusions: Due to the overlap

Published
2018
Full Text
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21. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Author

Knaus, A, Pantel, JT, Pendziwiat, M, Hajjir, N, Zhao, M, Hsieh, T-C, Schubach, M, Gurovich, Y, Fleischer, N, Jaeger, M, Koehler, S, Muhle, H, Korff, C, Moller, RS, Bayat, A, Calvas, P, Chassaing, N, Warren, H, Skinner, S, Louie, R, Evers, C, Bohn, M, Christen, H-J, van den Born, M, Obersztyn, E, Charzewska, A, Endziniene, M, Kortuem, F, Brown, N, Robinson, PN, Schelhaas, HJ, Weber, Y, Helbig, I, Mundlos, S, Horn, D, Krawitz, PM, Knaus, A, Pantel, JT, Pendziwiat, M, Hajjir, N, Zhao, M, Hsieh, T-C, Schubach, M, Gurovich, Y, Fleischer, N, Jaeger, M, Koehler, S, Muhle, H, Korff, C, Moller, RS, Bayat, A, Calvas, P, Chassaing, N, Warren, H, Skinner, S, Louie, R, Evers, C, Bohn, M, Christen, H-J, van den Born, M, Obersztyn, E, Charzewska, A, Endziniene, M, Kortuem, F, Brown, N, Robinson, PN, Schelhaas, HJ, Weber, Y, Helbig, I, Mundlos, S, Horn, D, and Krawitz, PM

Abstract

BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS). However, the increasing number of individuals with a GPIBD shows that hyperphosphatasia is a variable feature that is not ideal for a clinical classification. METHODS: We studied the discriminatory power of multiple GPI-linked substrates that were assessed by flow cytometry in blood cells and fibroblasts of 39 and 14 individuals with a GPIBD, respectively. On the phenotypic level, we evaluated the frequency of occurrence of clinical symptoms and analyzed the performance of computer-assisted image analysis of the facial gestalt in 91 individuals. RESULTS: We found that certain malformations such as Morbus Hirschsprung and diaphragmatic defects are more likely to be associated with particular gene defects (PIGV, PGAP3, PIGN). However, especially at the severe end of the clinical spectrum of HPMRS, there is a high phenotypic overlap with MCAHS. Elevation of AP has also been documented in some of the individuals with MCAHS, namely those with PIGA mutations. Although the impairment of GPI-linked substrates is supposed to play the key role in the pathophysiology of GPIBDs, we could not observe gene-specific profiles for flow cytometric markers or a correlation between their cell surface levels and the severity of the phenotype. In contrast, it was facial recognition software that achieved the highest accuracy in predicting the disease-causing gene in a GPIBD. CONCLUSIONS: Due to the overlap

Published
2018

24. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Author

Depienne, C, Nava, C, Keren, B, Heide, S, Rastetter, A, Passemard, S, Chantot-Bastaraud, S, Moutard, M-L, Agrawal, PB, VanNoy, G, Stoler, JM, Amor, DJ, de Villemeur, TB, Doummar, D, Alby, C, Cormier-Daire, V, Garel, C, Marzin, P, Scheidecker, S, de Saint-Martin, A, Hirsch, E, Korff, C, Bottani, A, Faivre, L, Verloes, A, Orzechowski, C, Burglen, L, Leheup, B, Roume, J, Andrieux, J, Sheth, F, Datar, C, Parker, MJ, Pasquier, L, Odent, S, Naudion, S, Delrue, M-A, Le Caignec, C, Vincent, M, Isidor, B, Renaldo, F, Stewart, F, Toutain, A, Koehler, U, Hackl, B, von Stulpnagel, C, Kluger, G, Moller, RS, Pal, D, Jonson, T, Soller, M, Verbeek, NE, van Haelst, MM, de Kovel, C, Koeleman, B, Monroe, G, van Haaften, G, Study, DDD, Attie-Bitach, T, Boutaud, L, Heron, D, Mignot, C, Depienne, C, Nava, C, Keren, B, Heide, S, Rastetter, A, Passemard, S, Chantot-Bastaraud, S, Moutard, M-L, Agrawal, PB, VanNoy, G, Stoler, JM, Amor, DJ, de Villemeur, TB, Doummar, D, Alby, C, Cormier-Daire, V, Garel, C, Marzin, P, Scheidecker, S, de Saint-Martin, A, Hirsch, E, Korff, C, Bottani, A, Faivre, L, Verloes, A, Orzechowski, C, Burglen, L, Leheup, B, Roume, J, Andrieux, J, Sheth, F, Datar, C, Parker, MJ, Pasquier, L, Odent, S, Naudion, S, Delrue, M-A, Le Caignec, C, Vincent, M, Isidor, B, Renaldo, F, Stewart, F, Toutain, A, Koehler, U, Hackl, B, von Stulpnagel, C, Kluger, G, Moller, RS, Pal, D, Jonson, T, Soller, M, Verbeek, NE, van Haelst, MM, de Kovel, C, Koeleman, B, Monroe, G, van Haaften, G, Study, DDD, Attie-Bitach, T, Boutaud, L, Heron, D, and Mignot, C

Abstract

Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with ZBTB18 mutations and seven with HNRNPU mutations, and review additional data from 37 previously published patients with 1q43q44 microdeletions. We compare clinical data of patients with 1q43q44 microdeletions with those of patients with point mutations in HNRNPU and ZBTB18 to assess the contribution of each gene as well as the possibility of epistasis between genes. Our study demonstrates that AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance. ZBTB18 may also contribute to microcephaly and HNRNPU to thin corpus callosum, but with a lower penetrance. Co-deletion of contiguous genes has additive effects. Our results confirm and refine the complex genotype-phenotype correlations existing in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of AKT3, ZBTB18 and HNRNPU in humans.

Published
2017

25. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Author

Mignot, C., von Stulpnage, C., Nava, C., Ville, D., Sanlaville, D., Lesca, G., Rastetter, A., Gachet, B., Marie, Y., Korenke, G. C., Borggraefe, I., Hoffmann-Zacharska, D., Szczepanik, E., Rudzka-Dybala, M., Uluc, Yis, Caglayan, H., Isapof, A., Marey, I., Panagiotakaki, E., Korff, C., Rossier, E., Riess, A., Beck-Woedl, S., Rauch, A., Zweier, C., Hoyer, J., Reis, A., Mironov, M., Bobylova, M., Mukhin, K., Hernandez-Hernandez, L., Maher, B., Sisodiya, S., Kuhn, M., Glaeser, D., Wechuysen, S., Myers, C. T., Mefford, H. C., Hortnagel, K., Biskup, S., Lemke, J. R., Heron, D., Kluger, G., Depienne, C., Craiu, D., De Jonghe, P., Helbig, I., Guerrini, R., Lehesjoki, A. -E., Marini, C., Muhle, H., Moller, R. S., Neubauer, B., Pal, D., Selmer, K., Stephani, U., Sterbova, K., Striano, P., Talvik, T., von Spiczak, S., Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie Pédiatrique [CHU Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique [HCL Groupement Hospitalier Est], Groupement hospitalier Lyon-Est, Université de Lyon, Klinikum Oldenburg [Oldenburg], Zentrum für Kinder- und Jugendmedizin, Dpt of Pediatric Neurology and Developmental Medicine and Epilepsy Center [Munich], University of Munich, Department of Medical Genetics, Institute of Mother and Child, Division of Child Neurology, Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ), Dpt of Molecular Biology and Genetics Istanbul, Boǧaziçi üniversitesi = Boğaziçi University [Istanbul], Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Epilepsie, sommeil et explorations fonctionnelles neuropédiatriques, Hospices Civils de Lyon (HCL)-Hôpital Femme Mère Enfant, Dpt de l'Enfant et de l'Adolescent, Neuropédiatrie [Genève], Hôpitaux Universitaires de Genève (HUG), Institute of Human Genetics [Tuebingen], University of Tuebingen, Institute of Medical Genetics and Applied Genomics [Tübingen], University of Tübingen, Institute of Medical Genetics, Universität Zürich [Zürich] = University of Zurich (UZH), Institute of Human Genetics [Erlangen, Allemagne], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Svt. Luka's Institute of Child Neurology and Epilepsy, Department of Clinical and Experimental Epilepsy, University College of London [London] (UCL), Genetikum, Neurogenetics Group, Division of Genetic Medicine [Seattle], University of Washington [Seattle], CeGaT GmbH, Institut für Humangenetik, Universität Heidelberg [Heidelberg], Mignot, Cyril, von Stülpnagel, Celina, Korff, Christian, EuroEPINOMICS-RES MAE Working Grp, HAL-UPMC, Gestionnaire, Service de génétique, cytogénétique, embryologie [CHU Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Groupement Hospitalier Lyon-Est (GHE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Boğaziçi University [Istanbul], CHU Trousseau [APHP], and Universität Heidelberg [Heidelberg] = Heidelberg University

Subjects
0301 basic medicine, Pediatrics, medicine.medical_specialty, Encephalopathy, Myoclonic Jerk, SYNGAP1, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, fluids and secretions, Medizinische Fakultät, Intellectual disability, mental disorders, Genetics, medicine, ddc:610, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Exome, Genetics (clinical), reproductive and urinary physiology, ddc:618, business.industry, medicine.disease, Hypotonia, 3. Good health, 030104 developmental biology, Autism, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Mae Euroepinomics-Res Mae; International audience; Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype–phenotype correlations.Methods We sequenced the exome or screened the exons of SYNGAP1 in a total of 251 patients with neurodevelopmental disorders. Molecular and clinical data from patients with SYNGAP1 mutations from other centres were also collected, focusing on developmental aspects and the associated epilepsy phenotype. A review of SYNGAP1 mutations published in the literature was also performed.Results We describe 17 unrelated affected individuals carrying 13 different novel loss-of-function SYNGAP1 mutations. Developmental delay was the first manifestation of SYNGAP1-related encephalopathy; intellectual disability became progressively obvious and was associated with autistic behaviours in eight patients. Hypotonia and unstable gait were frequent associated neurological features. With the exception of one patient who experienced a single seizure, all patients had epilepsy, characterised by falls or head drops due to atonic or myoclonic seizures, (myoclonic) absences and/or eyelid myoclonia. Triggers of seizures were frequent (n=7). Seizures were pharmacoresistant in half of the patients. The severity of the epilepsy did not correlate with the presence of autistic features or with the severity of cognitive impairment. Mutations were distributed throughout the gene, but spared spliced 3′ and 5′ exons. Seizures in patients with mutations in exons 4–5 were more pharmacoresponsive than in patients with mutations in exons 8–15.Conclusions SYNGAP1 encephalopathy is characterised by early neurodevelopmental delay typically preceding the onset of a relatively recognisable epilepsy comprising generalised seizures (absences, myoclonic jerks) and frequent triggers.

Published
2016

27. Workshop island 3: algebraic aspects of integrability. Introduction to an additional volume of selected papers arising from the conference on algebraic aspects of integrable systems, Island 3, Islay 2007

Author

Feigin, M., Korff, C., Strachan, I., Feigin, M., Korff, C., and Strachan, I.

Subjects
QA
Abstract

As did the very first ISLAND workshop, ISLAND 3 took place on the Hebridean island of Islay, providing a beautiful and serene surrounding for the meeting which ran for over four days. Building on the success of the previous meetings, ISLAND 3 saw the largest number (so far) of participants coming from countries all over the world. A complete list can be found below.

Published
2009

28. DE NOVO LOSS- OR GAIN-OF-FUNCTION MUTATIONS IN KCNA2 CAUSE EPILEPTIC ENCEPHALOPATHY

Author

Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M., May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H., Lemke, J., Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M., May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H., and Lemke, J.

Published
2015

29. What to do in failed hemispherotomy? Our clinical series and review of the literature.

Author

Bartoli, Andrea, El Hassani, Y., Jenny, B., Momjian, S., Korff, C. M., Seeck, M., Vulliemoz, S., and Schaller, K.

Subjects
DIAGNOSIS of epilepsy, EPILEPSY surgery, HISTOPATHOLOGY, SURGICAL complications, MEDICAL databases, MEDICAL literature reviews
Abstract

Hemispherotomy is an established surgical technique to cure or palliate selected, mostly young patients suffering from refractory epilepsy. However, a few patients continue to have seizures despite the surgical hemispherical disconnection. We present a case series of patients who underwent redo hemispherotomy after a first unsuccessful hemispherical disconnection and provide a roadmap for subsequent workup and treatment. The institutional database of epilepsy surgery was reviewed. Twenty-four patients who underwent hemispherotomies for refractory epilepsy were identified between 2007 and 2016. Patients' notes were checked for demographics, history, clinical presentation, preoperative workup, medical treatment, age at first hemispherotomy, and surgical technique. Complications, histopathology, postoperative antiepileptic drug, and postoperative neurological follow-up were documented. Engel class was used to determine the outcome after surgery. Three patients (one hemimegalencephaly, one perinatal stroke, and one Rasmussen's disease) underwent redo hemispherotomy after electroencephalography and MRI studies with particular importance given to diffusion tensor imaging (DTI) to demonstrate residual connection between hemispheres. In one case, redo disconnection followed by a frontal lobectomy rendered the patient seizure-free (Engel class I). In one case, the seizure frequency remained the same but generalized seizures disappeared (Engel class III), and in one case, seizure frequency was considerably reduced after the redo disconnection (Engel class II), with a minimum follow-up of 2 years. Surgical aspects, possible reasons of failure of first hemispherotomy, and rationale that led to second-look surgery are presented. Reasons for failure can be related to patient's selection and/or surgical aspects. Hemispherotomy is a technically demanding procedure and requires accurate preoperative workup. Redo hemispherotomy is a valid option on the basis of further epileptological and radiological workup to demonstrate residual interhemispheric connections and/or rule out bi-hemispheric epileptic activity. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
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30. Noncommutative Schur polynomials and the crystal limit of the Uq sl(2)-vertex model

Author

Korff, C.

Subjects
Mathematics::Quantum Algebra, QA
Abstract

Starting from the Verma module of U_q sl(2) we consider the evaluation module for affine U_q sl(2) and discuss its crystal limit (q=0). There exists an associated integrable statistical mechanics model on a square lattice defined in terms of vertex configurations. Its transfer matrix is the generating function for noncommutative complete symmetric polynomials in the generators of the affine plactic algebra, an extension of the finite plactic algebra first discussed by Lascoux and Sch\"{u}tzenberger. The corresponding noncommutative elementary symmetric polynomials were recently shown to be generated by the transfer matrix of the so-called phase model discussed by Bogoliubov, Izergin and Kitanine. Here we establish that both generating functions satisfy Baxter's TQ-equation in the crystal limit by tying them to special U_q sl(2) solutions of the Yang-Baxter equation. The TQ-equation amounts to the well-known Jacobi-Trudy formula leading naturally to the definition of noncommutative Schur polynomials. The latter can be employed to define a ring which has applications in conformal field theory and enumerative geometry: it is isomorphic to the fusion ring of the sl(n)_k -WZNW model whose structure constants are the dimensions of spaces of generalized theta-functions over the Riemann sphere with three punctures.

Published
2010

31. A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation

Author

Le Gal, F, Korff, C M, Monso-Hinard, C, Mund, M T, Morris, M, Malafosse, A, Schmid, T, University of Zurich, and Le Gal, F

Subjects
Male, Malformations of Cortical Development/epidemiology/*genetics/*mortality, Mutation/*genetics, 340 Law, 610 Medicine & health, Epilepsies, Myoclonic, Nerve Tissue Proteins, 10218 Institute of Legal Medicine, Nerve Tissue Proteins/*genetics, Sodium Channels, Malformations of Cortical Development, NAV1.1 Voltage-Gated Sodium Channel, Death, Sudden, ddc:616.89, 2728 Neurology (clinical), Death, Sudden/*epidemiology, 2808 Neurology, Cause of Death, Sodium Channels/*genetics, Mutation, Humans, ddc:576.5, Child, Epilepsies, Myoclonic/epidemiology/*genetics/*mortality
Abstract

A boy with a clinical history of pharmacologically resistant Dravet syndrome died suddenly after falling asleep. The autopsy concluded that the cause of death was sudden unexpected death in epilepsy (SUDEP). Postmortem molecular analysis of the SCN1A gene by multiplex ligation-dependent probe amplification (MLPA), high-resolution melting curve analysis (HRMCA), and sequencing revealed a frameshift duplication of adenosine at position 504. The incidence of this mutation is discussed as a potential cause of SUDEP.

Published
2010

32. PT symmetry on the lattice: the quantum group invariant XXZ spin chain

Author

Korff, C. and Weston, R.

Subjects
QA
Abstract

We investigate the PT-symmetry of the quantum group invariant XXZ chain. We show that the PT-operator commutes with the quantum group action and also discuss the transformation properties of the Bethe wavefunction. We exploit the fact that the Hamiltonian is an element of the Temperley–Lieb algebra in order to give an explicit and exact construction of an operator that ensures quasi-Hermiticity of the model. This construction relies on earlier ideas related to quantum group reduction. We then employ this result in connection with the quantum analogue of Schur–Weyl duality to introduce a dual pair of C-operators, both of which have closed algebraic expressions. These are novel, exact results connecting the research areas of integrable lattice systems and non-Hermitian Hamiltonians.

Published
2007

33. Representation Theory and Baxter's TQ equation for the six-vertex model. A pedagogical overview

Author

Korff, C.

Subjects
Statistical Mechanics (cond-mat.stat-mech), FOS: Physical sciences, QA, Condensed Matter - Statistical Mechanics
Abstract

A summary of the construction procedure of generalized versions of Baxter's Q-operator is given. Illustrated by several figures and diagrams the use of representation theory is explained step-by-step avoiding technical details. The relation with the infinite-dimensional non-abelian symmetries of the six-vertex model at roots of unity is discussed and parallels with the eight-vertex case outlined., Comment: 15 pages, 7 figures. Based on a talk presented at the RIMS workshop "Progress in Solvable Lattice Models", Kyoto, July 2004

Published
2004
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47. Universal amplitude ratios and Coxeter geometry in the dilute <f>AL</f> model

Author

Korff, C. and Seaton, K.A.

Subjects
*ANALYTIC functions, *GEOMETRY, *PERTURBATION theory
Abstract

The leading excitations of the dilute AL model in regime 2 are considered using analytic arguments. The model can be identified with the integrable φ1,2 perturbation of the unitary minimal series ML,L+1. It is demonstrated that the excitation spectrum of the transfer matrix satisfies the same functional equations in terms of elliptic functions as the exact S-matrices of the φ1,2 perturbation do in terms of trigonometric functions. In particular, the bootstrap equation corresponding to a self-fusing process is recovered. For the special cases L=3,4,6 corresponding to the Ising model in a magnetic field, and the leading thermal perturbations of the tricritical Ising and three-state Potts model, as well as for the unrestricted model, L=∞, we relate the structure of the Bethe roots to the Lie algebras E8,7,6 and D4 using Coxeter geometry. In these cases Coxeter geometry also allows for a single formula in generic Lie algebraic terms describing all four cases. For general L we calculate the spectral gaps associated with the leading excitation which allows us to compute universal amplitude ratios characteristic of the universality class. The ratios are of field theoretic importance as they enter the bulk vacuum expectation value of the energy momentum tensor associated with the corresponding integrable quantum field theories. [Copyright &y& Elsevier]

Published
2002
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