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53. PND78 - SOCIO-ECONOMIC IMPACT OF DRAVET SYNDROME IN GERMANY: A REAL-WORLD STUDY

Author

Irwin, J, primary, Strzelczyk, A, additional, Kalski, M, additional, Bast, T, additional, Wiemer-Kruel, A., additional, Bettendorf, U, additional, Kieslich, M, additional, Kluger, G, additional, Kurlemann, G, additional, Mayer, T, additional, Neubauer, B.A., additional, Polster, T, additional, Herting, A, additional, von Spiczak, S., additional, Trollmann, R, additional, Wolff, M, additional, Klein, KM, additional, Rosenow, F, additional, Schubert-Bast, S., additional, Carroll, J, additional, MacDonald, D, additional, and Gibson, E, additional

Published
2018
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54. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Author

Wolff, M. (Markus), Johannesen, K.M. (Katrine M.), Hedrich, U.B.S. (Ulrike B. S.), Masnada, S. (Silvia), Rubboli, G. (Guido), Gardella, E. (Elena), Lesca, G. (Gaetan), Ville, D. (Dorothée), Milh, M. (Mathieu), Villard, L. (Laurent), Afenjar, A. (Alexandra), Chantot-Bastaraud, S. (Sandra), Mignot, A., Lardennois, C. (Caroline), Nava, C. (Caroline), Schwarz, N. (Niklas), Gérard, M. (Marion), Perrin, L. (Laurence), Doummar, D. (Diane), Auvin, S. (Stéphane), Miranda, M.J. (Maria J.), Hempel, M. (Maja), Brilstra, E. (Eva), Knoers, N.V.A.M. (Nine), Verbeek, N.E. (Nienke), Kempen, M.J.A. (M. J A) van, Braun, K.P. (Kees P.), Mancini, G.M.S. (Grazia), Biskup, S. (Saskia), Hörtnagel, K. (Konstanze), Döcker, M. (Miriam), Bast, T. (Thomas), Loddenkemper, T. (Tobias), Wong-Kisiel, L. (Lily), Baumeister, F.M. (Friedrich M.), Fazeli, W. (Walid), Striano, P. (Pasquale), Dilena, R. (Robertino), Fontana, E. (Elena), Zara, F. (Federico), Kurlemann, G. (Gerhard), Klepper, J. (Joerg), Thoene, J.G. (Jess G.), Arndt, D.H. (Daniel H.), Deconinck, N. (Nicolas), Schmitt-Mechelke, T. (Thomas), Maier, O. (Oliver), Muhle, H. (Hiltrud), Wical, B. (Beverly), Finetti, C. (Claudio), Brückner, R. (Reinhard), Pietz, J. (Joachim), Golla, G. (Günther), Jillella, D. (Dinesh), Linnet, K.M. (Karen M.), Charles, P. (Perrine), Moog, U. (Ute), Õiglane-Shlik, E. (Eve), Mantovani, J.F. (John F.), Park, K. (Kristen), Deprez, M. (Marie), Lederer, D. (Damien), Mary, S. (Sandrine), Scalais, E. (Emmanuel), Selim, L. (Laila), Coster, R.N.A. (R. N A) van, Lagae, L. (Lieven), Nikanorova, M. (Marina), Hjalgrim, H. (Helle), Korenke, G.C. (Christoph), Trivisano, M. (Marina), Specchio, N. (Nicola), Ceulemans, B. (Berten), Dorn, T. (Thomas), Helbig, K.L. (Katherine L.), Hardies, K. (K.), Stamberger, H. (Hannah), Jonghe, P. (P.) de, Weckhuysen, S. (Sarah), Lemke, J.R. (Johannes R.), Krägeloh-Mann, I. (Ingeborg), Helbig, I. (Ingo), Kluger, G. (Gerhard), Lerche, H. (Holger), Møller, R.S. (Rikke), Wolff, M. (Markus), Johannesen, K.M. (Katrine M.), Hedrich, U.B.S. (Ulrike B. S.), Masnada, S. (Silvia), Rubboli, G. (Guido), Gardella, E. (Elena), Lesca, G. (Gaetan), Ville, D. (Dorothée), Milh, M. (Mathieu), Villard, L. (Laurent), Afenjar, A. (Alexandra), Chantot-Bastaraud, S. (Sandra), Mignot, A., Lardennois, C. (Caroline), Nava, C. (Caroline), Schwarz, N. (Niklas), Gérard, M. (Marion), Perrin, L. (Laurence), Doummar, D. (Diane), Auvin, S. (Stéphane), Miranda, M.J. (Maria J.), Hempel, M. (Maja), Brilstra, E. (Eva), Knoers, N.V.A.M. (Nine), Verbeek, N.E. (Nienke), Kempen, M.J.A. (M. J A) van, Braun, K.P. (Kees P.), Mancini, G.M.S. (Grazia), Biskup, S. (Saskia), Hörtnagel, K. (Konstanze), Döcker, M. (Miriam), Bast, T. (Thomas), Loddenkemper, T. (Tobias), Wong-Kisiel, L. (Lily), Baumeister, F.M. (Friedrich M.), Fazeli, W. (Walid), Striano, P. (Pasquale), Dilena, R. (Robertino), Fontana, E. (Elena), Zara, F. (Federico), Kurlemann, G. (Gerhard), Klepper, J. (Joerg), Thoene, J.G. (Jess G.), Arndt, D.H. (Daniel H.), Deconinck, N. (Nicolas), Schmitt-Mechelke, T. (Thomas), Maier, O. (Oliver), Muhle, H. (Hiltrud), Wical, B. (Beverly), Finetti, C. (Claudio), Brückner, R. (Reinhard), Pietz, J. (Joachim), Golla, G. (Günther), Jillella, D. (Dinesh), Linnet, K.M. (Karen M.), Charles, P. (Perrine), Moog, U. (Ute), Õiglane-Shlik, E. (Eve), Mantovani, J.F. (John F.), Park, K. (Kristen), Deprez, M. (Marie), Lederer, D. (Damien), Mary, S. (Sandrine), Scalais, E. (Emmanuel), Selim, L. (Laila), Coster, R.N.A. (R. N A) van, Lagae, L. (Lieven), Nikanorova, M. (Marina), Hjalgrim, H. (Helle), Korenke, G.C. (Christoph), Trivisano, M. (Marina), Specchio, N. (Nicola), Ceulemans, B. (Berten), Dorn, T. (Thomas), Helbig, K.L. (Katherine L.), Hardies, K. (K.), Stamberger, H. (Hannah), Jonghe, P. (P.) de, Weckhuysen, S. (Sarah), Lemke, J.R. (Johannes R.), Krägeloh-Mann, I. (Ingeborg), Helbig, I. (Ingo), Kluger, G. (Gerhard), Lerche, H. (Holger), and Møller, R.S. (Rikke)

Abstract

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatme

Published
2017
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55. Posterausstellung

Author

Grevers, G., Heinzmann, U., Pirsig, W., Ritter, J., Berghaus, A., Godbersen, G. S., Kahlbrandt, A., Beigel, A., Hörmann, K., Bernecker, F., Donath, K., Hartwein, J., Rauchfuss, A., Löhle, E., Galić, M., Giebel, W., Baderliza, S., Gitter, A. H., Zenner, H.-P., Golenhofen, M., Lindenberger, M., Lenarz, Th., Lamm, Kerstin, Lamm, Ch., Lamm, H., Schumann, K., Goertzen, W., Wigand, M. E., Haid, T., Berg, M., Welkoborsky, H.-J., Vogl, Th., Kang, M., v. Schlachta, I., Patil, N., Dahinten, A., Schneider, D., Claussen, C.-F., Claussen, E., Esser, G., Schunicht, R., Seifert-Kraft, U., Kurlemann, G., Rolf, L. H., Radü, H. J., Hoke, M., Wünsche, B., Bootz, F., Müller, G., Riederer, A., Müller-Höcker, J., Wilmes, E., Vogl, T., Stoiber, L., Stanek, G., Kürten, Ch., Kau, R., Koldovsky, P., Ptok, A., Schwab, M., Ptok, M., Burghardt, B., Luckhaupt, H., Bertram, G., Friedrich, G., Kainz, J., Schneider, G., Anderhuber, F., Nickol, H.-J., Deichmann, Kírsten, Werner, J. A., Schünke, M., Rudert, H., Tillmann, B., Fleischer, Konrad, editor, and Wigand, Malte Erik, editor

Published
1988
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58. CLINICAL HETEROGENEITY AND ITS POTENTIAL THERAPEUTIC IMPLICATIONS IN CHILDREN WITH SCN2A-RELATED DISORDERS

Author

Ceulemans, B., Lederer, D., Dorn, T., Helbig, K. L., Hardies, K., Stamberger, H., de Jonghe, P., Weckhuysen, S., Lemke, J. R., Helbig, I, Kluger, G., Moller, R. S., Johannesen, K. M., Wolf, M., Masnada, S., Rubboli, G., Gardella, E., Milh, M., Villard, L., Mignot, C., Lardennois, C., Bourel-Ponchel, Emilie, Nava, C., Lesca, G., Gerard, M., Perrin, L., Doummar, D., Auvin, S., Miranda, M. J., Brilstra, E., Knoers, N., Doecker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B., Finetti, C., Brueckner, R., Pietz, J., Golla, G., Jillella, D., Afenjar, A., Linnet, K. M., Charles, P., Oiglane-Slik, E., Mantovani, J. F., Deprez, M., Scalais, E., Lagae, L., Nikanorova, M., Hjalgrim, H., Depienne, C., Scheidecker, S., Kremer, V, Doray, B., Alembik, y., University of British Columbia (UBC), Pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) - Hôpital de la Timone, Ecole Polytechnique Fédérale de Lausanne (EPFL), Université de Strasbourg (UNISTRA), Centre National de la Recherche Scientifique (CNRS), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-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), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (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), Laboratoire Insulaire du Vivant et de l'Environnement (LIVE), Université de la Nouvelle-Calédonie (UNC), Service de neuropédiatrie et maladies métaboliques [CHU Robert-Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Department of Child Neurology, Development and Rehabilitation [Hospital of Eastern Switzerland], Children's Hospital of Eastern Switzerland St.Gallen, Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de médecine interne et centre de référence des maladies rares [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], IMEC (IMEC), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Statens seruminstitut, and Les Hôpitaux Universitaires de Strasbourg (HUS)

Subjects
[SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2016

59. Midaortic Syndrome in TSC

Author

Dillenberger, S., additional, Klein, M., additional, Schwindt, W., additional, Kasprzak, B., additional, Althaus, J., additional, Fiedler, B., additional, and Kurlemann, G., additional

Published
2017
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68. Tödliches Chamäleon

Author

Deba, T, Schwartz, O, Althaus, JP, Niederstadt, T, Ahlmann, M, Fiedler, B, and Kurlemann, G

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Fragestellung: Wie verlässlich sind die Diagnosekriterien der Hämophagozytischen Lymphohistiozytose (HLH)? Methode: Case-Report über einen Jungen, der im Rahmen einer Gastroenteritis im Alter von 8 LM mit wechselnder Vigilanz, beidseitiger Abduzensparese und Hepatosplenomegalie[for full text, please go to the a.m. URL], Süddeutscher Kongress für Kinder- und Jugendmedizin; 64. Jahrestagung der Süddeutschen Gesellschaft für Kinder- und Jugendmedizin gemeinsam mit der Süddeutschen Gesellschaft für Kinderchirurgie und dem Berufsverband der Kinder- und Jugendärzte e.V. – Landesverband Bayern

Published
2015
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75. Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS

Author

Tacke, Moritz, primary, Gerstl, Lucia, additional, Heinen, Florian, additional, Heukaeufer, Isabel, additional, Bonfert, Michaela, additional, Bast, Thomas, additional, Cornell, Sonia, additional, Neubauer, Bernd Axel, additional, Borggraefe, Ingo, additional, Baumeister, F.A.M., additional, Baethmann, M., additional, Schreiber-Gollwitzer, B., additional, Bentele, K., additional, Blank, C., additional, Held, J., additional, Blank, H.M., additional, Liebrich, K., additional, Bode, H., additional, Braun, J., additional, Bosch, F., additional, Wagner, R., additional, Brandl, U., additional, Wetzel, K., additional, Brockmann, K., additional, Schlockwerder, C., additional, Dahlem, P., additional, Baudler, I., additional, Ernst, J.P., additional, Mayer, H., additional, Feldmann, E., additional, Pattber-Wolff, A., additional, Fiedler, A., additional, Sonnleitner, S., additional, Gerigk, M., additional, Heß, S., additional, Feiereis, T., additional, Hikel, C., additional, Hoffmann, H.G., additional, Rickeshenrich, A., additional, Kieslich, M., additional, Dewitz, R., additional, Baz Bartels, M., additional, Klepper, J., additional, Kleuker, S., additional, Kluger, G., additional, Kirsch, A., additional, Koch, H., additional, Meerpohl, U., additional, Koch, W., additional, Korinthenberg, R., additional, Stehle-Renner, B., additional, Krois, I., additional, Wegener, A., additional, Kühne, H., additional, Weiß, C., additional, Kurlemann, G., additional, Elkemann, U., additional, Mandl, M., additional, Friedl, A., additional, Mause, U., additional, Müller, M., additional, Navratil, P., additional, Iken, U., additional, Opp, J., additional, Walter, J., additional, Penzien, J., additional, Prietsch, V., additional, Siegrist, B., additional, Quattländer, A., additional, Rating, D., additional, Reuner, G., additional, Schara, U., additional, Shamdeen, M.G., additional, Struchholz, H., additional, Sprinz, A., additional, Wendker-Magrabi, H., additional, Stephani, U., additional, Muhle, H., additional, Carlsson, G., additional, Straßburg, H.M., additional, Ottensmeier, H., additional, Töpke, B., additional, Tatsek, K., additional, Trollmann, R., additional, Poida-Herzing, E., additional, Tuschen-Hofstätter, E., additional, Menschig, M., additional, Waltz, S., additional, Pickartz, A., additional, Weber, G., additional, Gehnen, T., additional, Wien, F.U., additional, Antemann, J., additional, Wolff, M., additional, Serra, E., additional, Polster, T., additional, Freitag, H., additional, Sönmez, Ö, additional, Rheinhardt, K., additional, Traus, M., additional, Schröder, A., additional, Hoovey, S., additional, and Navratil, C., additional

Published
2016
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77. Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy

Author

Müller, A., primary, Helbig, I., additional, Jansen, C., additional, Bast, T., additional, Guerrini, R., additional, Jähn, J., additional, Muhle, H., additional, Auvin, S., additional, Korenke, G.C., additional, Philip, S., additional, Keimer, R., additional, Striano, P., additional, Wolf, N.I., additional, Püst, B., additional, Thiels, Ch., additional, Fogarasi, A., additional, Waltz, S., additional, Kurlemann, G., additional, Kovacevic-Preradovic, T., additional, Ceulemans, B., additional, Schmitt, B., additional, Philippi, H., additional, Tarquinio, D., additional, Buerki, S., additional, von Stülpnagel, C., additional, and Kluger, G., additional

Published
2016
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78. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Author

Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam GM, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P, Battaglia, S, Fazzi, E, Giordano, L, Pinelli, L, Boccone, L, Barone, R, Sorge, G, Briatore, E, Bigoni, S, Ferlini, A, Donati, Ma, Biancheri, R, Caridi, G, Divizia, Mt, Faravelli, F, Ghiggeri, G, Mirabelli, M, Pessagno, A, Rossi, A, Uliana, V, Amorini, M, Briguglio, M, Briuglia, S, Salpietro, Cd, Tortorella, G, Adami, A, Bonati, Mt, Castorina, P, D'Arrigo, S, Lalatta, F, Marra, G, Moroni, I, Pantaleoni, C, Riva, D, Scelsa, B, Spaccini, L, Del Giudice, E, Ludwig, K, Permunian, A, Suppiej, A, Macaluso, C, Pichiecchio, A, Battini, R, Di Giacomo, M, Priolo, M, Timpani, P, Pagani, G, Di Sabato ML, Emma, F, Leuzzi, V, Mancini, F, Majore, S, Micalizzi, A, Parisi, P, Romani, M, Stringini, G, Zanni, G, Ulgheri, L, Pollazzon, M, Renieri, Alessandra, Belligni, E, Grosso, E, Pieri, I, Silengo, M, Devescovi, R, Greco, D, Romano, C, Cazzagon, M, Simonati, A, Al Tawari AA, Bastaki, L, Mégarbané, A, Sabolic Avramovska, V, Said, E, Stromme, P, Koul, R, Rajab, A, Azam, M, Barbot, C, Salih, Ma, Tabarki, B, Jocic Jakubi, B, Martorell Sampol, L, Rodriguez, B, Pascual Castroviejo, I, Gener, B, Puschmann, A, Starck, L, Capone, A, Lemke, J, Fluss, J, Niedrist, D, Hennekam, Rc, Wolf, N, Gouider Khouja, N, Kraoua, I, Ceylaner, S, Teber, S, Akgul, M, Anlar, B, Comu, S, Kayserili, H, Yüksel, A, Akcakus, M, Caglayan, Ao, Aldemir, O, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Sheridan, E, Barnicoat, A, Hemingway, C, Lees, M, Wakeling, E, Blair, E, Bernes, S, Sanchez, H, Clark, Ae, Demarco, E, Donahue, C, Sherr, E, Hahn, J, Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh, Ca, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, Karaca, E, Swoboda, Kj, Viskochil, D, Dobyns, Wb, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics, Paediatrics, OMÜ, University of Zurich, Valente, Enza Maria, Fluss, Joel Victor, Travaglini, L, Brancati, F, Silhavy, J, Iannicelli, M, Nickerson, E, Elkhartoufi, N, Scott, E, Spencer, E, Gabriel, S, Thomas, S, Ben Zeev, B, Bertini, E, Boltshauser, E, Chaouch, M, Cilio, Mr, de Jong, Mm, Kayserili, H, Ogur, G, Poretti, A, Signorini, S, Uziel, G, Zaki, M, Johnson, C, Atti? Bitach, T, Gleeson, Jg, Valente, Em, International JSRD Study, Group, and DEL GIUDICE, Ennio

Subjects
Male, Ciliata -- Anatomy, Proband, 10039 Institute of Medical Genetics, Meckel syndrome, RPGRIP1L, Syndromes, INPP5E, MODIFIER, Phosphoric Monoester Hydrolases/genetics, Ciliopathies, Polycystic Kidney Diseases/diagnosis/genetics, CILIUM, 0302 clinical medicine, Gene Frequency, Cerebellum, Prenatal Diagnosis, RETINAL DEGENERATION, Prevalence, MECKEL, ciliopathies, Joubert syndrome and related disorders, Eye Abnormalities, Child, Genetics (clinical), Encephalocele, Joubert syndrome, Genetics, Polycystic Kidney Diseases, 0303 health sciences, ddc:618, Cerebellar Diseases/diagnosis/genetics, Kidney Diseases, Cystic, Pedigree, 3. Good health, Phenotype, Child, Preschool, Medical genetics, Female, Retinitis Pigmentosa, FORM, Ciliary Motility Disorders, Heterozygote, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, Molecular Sequence Data, Encephalocele/diagnosis/genetics, AHI1, 610 Medicine & health, Biology, Retina, Article, Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome, NO, Ciliary Motility Disorders/diagnosis/genetics, 03 medical and health sciences, 1311 Genetics, Cerebellar Diseases, REVEALS, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Kidney Diseases, Cystic/diagnosis/genetics, abnormalities, multiple, adolescent, amino acid sequence, cerebellar diseases, cerebellum, child, preschool, ciliary motility disorders, encephalocele, eye abnormalities, female, heterozygote, humans, infant, kidney diseases, cystic, male, molecular sequence data, pedigree, phosphoric monoester hydrolases, polycystic kidney diseases, prenatal diagnosis, prevalence, retina, gene frequency, mutation, phenotype, 030304 developmental biology, Eye Abnormalities/diagnosis/genetics, COACH SYNDROME, Retina/abnormalities, Genetic heterogeneity, Respiration disorders -- Therapy, Infant, medicine.disease, Phosphoric Monoester Hydrolases, INPP5E mutation, 10036 Medical Clinic, Mutation, 030217 neurology & neurosurgery
Abstract

Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain–hindbrain malformation known as the ‘molar tooth sign’. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS foetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus., peer-reviewed

Published
2013

80. Intraspinales Dermoid – Damoklesschwert oder interdisziplinäre Herausforderung?

Author

Elpers, C, Brentrup, A, Fiedler, B, Schwindt, W, Kuwertz-Bröking, E, Omran, H, and Kurlemann, G

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Das intraspinale Dermoid ist ein seltener, häufig thorakolumbal lokalisierter, kongenitaler Tumor, bestehend aus eingeschlossenen, ektodermalen Zellen, häufig assoziiert mit einem Dermalsinus oder intraspinalen Abszessen Fall: 5-jähriger Junge, initiale Präsentation im 1. LM mit[for full text, please go to the a.m. URL], 60. Jahrestagung der Norddeutschen Gesellschaft für Kinder- und Jugendmedizin

Published
2011
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81. (Post-)Infektiöse Enzephalitis – ADEM?

Author

Elpers, C, Fiedler, B, Kurlemann, G, and Omran, H

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Die ADEM ist eine idiopathische, primär monophasisch verlaufende Demyelinisierung des ZNS charakteristisch nach Infektionen, seltener Impfungen mit guter Prognose im Kindesalter trotz schwerer Verlaufsformen. Charakteristischerweise besteht zwischen Beginn der neurolog. Symptomatik und Vorerkrankung[for full text, please go to the a.m. URL], 60. Jahrestagung der Norddeutschen Gesellschaft für Kinder- und Jugendmedizin

Published
2011
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84. Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Author

Herbst, S., primary, Geis, T., additional, Borggräfe, I., additional, Debus, O., additional, Häußler, M., additional, Phillipi, H., additional, Ross, S., additional, Vosschulte, P., additional, Rossegg, U., additional, Beaud, N., additional, Budde, J., additional, Hahn, A., additional, Kurlemann, G., additional, and Hehr, U., additional

Published
2015
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85. Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Author

Lotte, J., primary, Bast, T., additional, Borusiak, P., additional, Coppola, A., additional, Cross, H., additional, Dimova, P., additional, Fogarasi, A., additional, Graness, I., additional, Guerrini, R., additional, Hjalgrim, H., additional, Kurlemann, G., additional, Leiz, S., additional, Linder-Lucht, M., additional, Loddenkemper, T., additional, Makowski, C., additional, Mühe, C., additional, Müller, A., additional, Nicolai, J., additional, Pellacani, S., additional, Philip, S., additional, Ruf, S., additional, Sánchez, I., additional, Schlachter, K., additional, Striano, P., additional, Sukhudyan, B., additional, Vermeulen, J., additional, Wilken, B., additional, Wolf, P., additional, Kluger, G., additional, Weisbrod, T., additional, and Keimer, R., additional

Published
2015
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94. De Novo SCN2A Mutations Cause Variable Phenotypes in Children with Epilepsy

Author

Wolff, M., primary, Bast, T., additional, Loddenkemper, T., additional, Jillella, D., additional, Döcker, M., additional, Wong-Kisiel, L., additional, Möller, R., additional, Weckhuysen, S., additional, Ceulemans, B., additional, Klepper, J., additional, Baumeister, F., additional, Finetti, C., additional, Kurlemann, G., additional, Muhle, H., additional, and Kluger, G., additional

Published
2014
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96. ABSTRACT 374

Author

van den Heuvel, I., primary, Masjosthusmann, K., additional, Kurlemann, G., additional, Hülskamp, G., additional, and Omran, H., additional

Published
2014
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97. Konversionsneurotisches Krankheitsspektrum in der Neuropädiatrie

Author

Weglage J, Schmitt Gm, and Kurlemann G

Subjects
Pediatrics, medicine.medical_specialty, business.industry, Psychosomatics, Choreoathetosis, Neurological disorder, medicine.disease, Neuroticism, humanities, Convulsive Seizures, El Niño, Pediatrics, Perinatology and Child Health, Paralysis, Medicine, medicine.symptom, business, Conversion disorder
Abstract

The incidence and symptomatology of conversion disorders in a neuropaediatric department was described. One year was retrospectively evaluated. From totally 12 patients with conversion disorders 7 were suffering for an impaired walk and each 1 patient for visual defect, choreoathetosis and confusion, convulsive seizures, tic, paralysis. "Conversion disorder" is an important and often ignored diagnosis in neuropaediatrician.

Published
1995

99. Dystonia in neurodegeneration with brain iron accumulation:outcome of bilateral pallidal stimuation

Author

Timmerman, L, Pauls, K, Wieland, K, Jech, R, Kurlemann, G, Sharma, B, Sharma, N, Gill, SS, Haenggeli, CA, Hayflick, SJ, Hograth, P, Leenders, KL, Limousin, P, Malanga, CJ, Moro, E, Ostrem, JL, Revilla, FJ, Santens, P, Schnitzler, A, Tisch, S, Valldeoriola, F, Vesper, J, Volkmann, J, Woitalla, D, Peker, S, Timmerman, L, Pauls, K, Wieland, K, Jech, R, Kurlemann, G, Sharma, B, Sharma, N, Gill, SS, Haenggeli, CA, Hayflick, SJ, Hograth, P, Leenders, KL, Limousin, P, Malanga, CJ, Moro, E, Ostrem, JL, Revilla, FJ, Santens, P, Schnitzler, A, Tisch, S, Valldeoriola, F, Vesper, J, Volkmann, J, Woitalla, D, and Peker, S

Abstract

Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty with speech and swallowing, pain and respiratory distress. Several case reports and one case series have been published concerning therapeutic outcome of pallidal deep brain stimulation in dystonia caused by neurodegeneration with brain iron degeneration, reporting mostly favourable outcomes. However, with case studies, there may be a reporting bias towards favourable outcome. Thus, we undertook this multi-centre retrospective study to gather worldwide experiences with bilateral pallidal deep brain stimulation in patients with neurodegeneration with brain iron accumulation. A total of 16 centres contributed 23 patients with confirmed neurodegeneration with brain iron accumulation and bilateral pallidal deep brain stimulation. Patient details including gender, age at onset, age at operation, genetic status, magnetic resonance imaging status, history and clinical findings were requested. Data on severity of dystonia (Burke Fahn Marsden Dystonia Rating Scale—Motor Scale, Barry Albright Dystonia Scale), disability (Burke Fahn Marsden Dystonia Rating Scale—Disability Scale), quality of life (subjective global rating from 1 to 10 obtained retrospectively from patient and caregiver) as well as data on supportive therapy, concurrent pharmacotherapy, stimulation settings, adverse events and side effects were collected. Data were collected once preoperatively and at 2–6 and 9–15 months postoperatively. The primary outcome measure was change in severity of dystonia. The mean improvement in severity of dystonia was 28.5% at 2–6 months and 25.7% at 9–15 months. At 9–15 months postoperatively, 66.7% of patients showed an improvement of 20% or more in severity of dystonia, and 31.3% sho

Published
2010

100. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes

Author

Neubauer, Bernd A., Waldegger, S., Heinzinger, J., Hahn, A., Kurlemann, G., Fiedler, B., Eberhard, F., Muhle, H., Stephani, U., Garkisch, S., Eeg-Olofsson, Orvar, Müller, U., Sander, T., Neubauer, Bernd A., Waldegger, S., Heinzinger, J., Hahn, A., Kurlemann, G., Fiedler, B., Eberhard, F., Muhle, H., Stephani, U., Garkisch, S., Eeg-Olofsson, Orvar, Müller, U., and Sander, T.

Abstract

OBJECTIVE: To explore the involvement of M-type potassium channels KCNQ2, Q3, and Q5 in the pathogenesis of common idiopathic epilepsies. METHODS: Sequence analysis of the KCNQ2, Q3, and Q5 coding regions was performed in a screening sample consisting of 58 nuclear families with rolandic epilepsy. Subsequently, an association study was conducted for all discovered variants in a case-control sample comprising 459 German patients with idiopathic generalized epilepsy (IGE) and 462 population controls. RESULTS: An in-frame deletion of codon 116 in KCNQ2 (p.Lys116del) and a missense mutation in KCNQ3 (p.Glu299Lys) were detected in two index cases exhibiting rolandic epilepsy and benign neonatal convulsions. Both mutations resulted in reduced potassium current amplitude in Xenopus oocytes. Mutation analysis of families with rolandic epilepsy without neonatal seizures discovered three novel missense variations (KCNQ2 p.Ile592Met, KCNQ3 p.Ala381Val, KCNQ3 p.Pro574Ser). The KCNQ2 p.Ile592Met variant displayed a significant reduction of potassium current amplitude in Xenopus oocytes and was present only once in 552 controls. Both missense variants identified in KCNQ3 (p.Ala381Val and p.Pro574Ser) were present in all affected family members and did not occur in controls, but did not show obvious functional abnormalities. The KCNQ3 missense variant p.Pro574Ser was also detected in 8 of 455 IGE patients but not in 454 controls (p = 0.008). In KCNQ2, a silent single nucleotide polymorphism (rs1801545) was found overrepresented in both epilepsy samples (IGE, p = 0.004). CONCLUSION: Sequence variations of the KCNQ2 and KCNQ3 genes may contribute to the etiology of common idiopathic epilepsy syndromes.

Published
2008
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