Search Results - "Riesch, Erik"

Targeted next generation sequencing as a diagnostic tool in epileptic disorders by Lemke, Johannes R., Riesch, Erik, Scheurenbrand, Tim, Schubach, Max, Wilhelm, Christian, Steiner, Isabelle, Hansen, Jörg, Courage, Carolina, Gallati, Sabina, Bürki, Sarah, Strozzi, Susi, Simonetti, Barbara Goeggel, Grunt, Sebastian, Steinlin, Maja, Alber, Michael, Wolff, Markus, Klopstock, Thomas, Prott, Eva C., Lorenz, Rüdiger, Spaich, Christiane, Rona, Sabine, Lakshminarasimhan, Maya, Kröll, Judith, Dorn, Thomas, Krämer, Günter, Synofzik, Matthis, Becker, Felicitas, Weber, Yvonne G., Lerche, Holger, Böhm, Detlef, Biskup, Saskia

“…Summary Purpose:  Epilepsies have a highly heterogeneous background with a strong genetic contribution. The variety of unspecific and overlapping syndromic and…”
Get full text

DEPDC5 mutations in genetic focal epilepsies of childhood by Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Muhle, Hiltrud, Riesch, Erik, Kluger, Gerhard, Jabbari, Kamel, Kawalia, Amit, Bäumel, Christine, Holthausen, Hans, Hahn, Andreas, Feucht, Martha, Neophytou, Birgit, Haberlandt, Edda, Becker, Felicitas, Altmüller, Janine, Thiele, Holger, Lemke, Johannes R., Lerche, Holger, Nürnberg, Peter, Sander, Thomas, Weber, Yvonne, Zimprich, Fritz, Neubauer, Bernd A.

“…Recent studies reported DEPDC5 loss‐of‐function mutations in different focal epilepsy syndromes. Here we identified 1 predicted truncation and 2 missense…”
Get full text

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome by Courage, Carolina, Jackson, Christopher B., Owczarek‐Lipska, Marta, Jamsheer, Aleksander, Sowińska‐Seidler, Anna, Piotrowicz, Małgorzata, Jakubowski, Lucjusz, Dallèves, Fanny, Riesch, Erik, Neidhardt, John, Lemke, Johannes R.

“…Hartsfield syndrome is a rare clinical entity characterized by holoprosencephaly and ectrodactyly with the variable feature of cleft lip/palate. In addition to…”
Get full text

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy by Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R

“…Johannes Lemke, Holger Lerche and colleagues report the identification of de novo mutations in the potassium channel gene KCNA2 in patients with epileptic…”
Get full text

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy by Lemke, Johannes R, Geider, Kirsten, Helbig, Katherine L, Heyne, Henrike O, Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S, Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A, Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L, Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J, Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J, Doherty, Emily S, Bijlsma, Emilia K, Ruivenkamp, Claudia A, Hoffer, Mariette J.V, Goldstein, Amy, Rajan, Deepa S, Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C, Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F, Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L, Laube, Bodo, Syrbe, Steffen

“…OBJECTIVE:To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying…”
Get full text

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes by Schubert, Julian, Siekierska, Aleksandra, Langlois, Mélanie, May, Patrick, Huneau, Clément, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid, Lemke, Johannes R, de Kovel, Carolien G F, Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R, Sander, Thomas, Rüschendorf, Franz, Caliebe, Almuth, Nagel, Inga, Kohl, Bernard, Kecskés, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H, Baulac, Stephanie, Møller, Rikke S, Hjalgrim, Helle, Koeleman, Bobby P C, Jurkat-Rott, Karin, Lehmann-Horn, Frank, Roach, Jared C, Glusman, Gustavo, Hood, Leroy, Galas, David J, Martin, Benoit, de Witte, Peter A M, Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo, Balling, Rudi, Nürnberg, Peter, Crawford, Alexander D, Esguerra, Camila V, Weber, Yvonne G, Lerche, Holger

“…Holger Lerche, Camila Esguerra and colleagues report the identification of inactivating mutations in STX1B in individuals with various seizure-related…”
Get full text

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies by Dohrn, Maike F., Glöckle, Nicola, Mulahasanovic, Lejla, Heller, Corina, Mohr, Julia, Bauer, Christine, Riesch, Erik, Becker, Andrea, Battke, Florian, Hörtnagel, Konstanze, Hornemann, Thorsten, Suriyanarayanan, Saranya, Blankenburg, Markus, Schulz, Jörg B., Claeys, Kristl G., Gess, Burkhard, Katona, Istvan, Ferbert, Andreas, Vittore, Debora, Grimm, Alexander, Wolking, Stefan, Schöls, Ludger, Lerche, Holger, Korenke, G. Christoph, Fischer, Dirk, Schrank, Bertold, Kotzaeridou, Urania, Kurlemann, Gerhard, Dräger, Bianca, Schirmacher, Anja, Young, Peter, Schlotter‐Weigel, Beate, Biskup, Saskia

“…Hereditary neuropathies comprise a wide variety of chronic diseases associated to more than 80 genes identified to date. We herein examined 612 index patients…”
Get full text

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene by Kousi, Maria, Anttila, Verneri, Schulz, Angela, Calafato, Stella, Jakkula, Eveliina, Riesch, Erik, Myllykangas, Liisa, Kalimo, Hannu, Topçu, Meral, Gökben, Sarenur, Alehan, Fusun, Lemke, Johannes R, Alber, Michael, Palotie, Aarno, Kopra, Outi, Lehesjoki, Anna-Elina

“…The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and…”
Get more information

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes by Lal, Dennis, Reinthaler, Eva M, Dejanovic, Borislav, May, Patrick, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Günter, Riesch, Erik, Ikram, M Arfan, van Duijn, Cornelia M, Uitterlinden, Andre G, Hofman, Albert, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico, Hahn, Andreas, Gormley, Padhraig, Becker, Felicitas, Weber, Yvonne G, Cilio, Maria Roberta, Kunz, Wolfram S, Krause, Roland, Zimprich, Fritz, Lemke, Johannes R, Nürnberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd A

“…The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of…”
Get full text

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes: e0150426 by Lal, Dennis, Reinthaler, Eva M, Dejanovic, Borislav, May, Patrick, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Guenter, Riesch, Erik, Ikram, M Arfan, Duijn, Cornelia Mvan

“…Objective The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of…”
Get full text