Search Results - "Larsen, Line H. G."

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation by Gardella, Elena, Becker, Felicitas, Møller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael, Thiele, Holger, Altmüller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nürnberg, Peter, Mang, Yuan, Bakke Møller, Louise, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sándor, Weber, Yvonne G.

“…Objective Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia (PKD), and their combination—known as infantile convulsions and…”
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Parental mosaicism in epilepsies due to alleged de novo variants by Møller, Rikke S., Liebmann, Nora, Larsen, Line H. G., Stiller, Mathias, Hentschel, Julia, Kako, Nahrain, Abdin, Dalia, Di Donato, Nataliya, Pal, Deb K., Zacher, Pia, Syrbe, Steffen, Dahl, Hans A., Lemke, Johannes R.

“…Summary Severe early onset epilepsies are often caused by de novo pathogenic variants. Few studies have reported the frequency of somatic mosaicism in parents…”
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Incorporating epilepsy genetics into clinical practice: a 360°evaluation by Oates, Stephanie, Tang, Shan, Rosch, Richard, Lear, Rosalie, Hughes, Elaine F., Williams, Ruth E., Larsen, Line H. G., Hao, Qin, Dahl, Hans Atli, Møller, Rikke S., Pal, Deb K.

“…We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated…”
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Utility of genetic testing for therapeutic decision‐making in adults with epilepsy by Johannesen, Katrine M., Nikanorova, Natalya, Marjanovic, Dragan, Pavbro, Agnieszka, Larsen, Line H. G., Rubboli, Guido, Møller, Rikke S.

“…Objective Genetic testing has become a routine part of the diagnostic workup in children with early onset epilepsies. In the present study, we sought to…”
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Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies by Johannesen, Katrine, Marini, Carla, Pfeffer, Siona, Møller, Rikke S, Dorn, Thomas, Niturad, Christina, Gardella, Elena, Weber, Yvonne, Søndergård, Marianne, Hjalgrim, Helle, Nikanorova, Mariana, Becker, Felicitas, Larsen, Line H.G, Dahl, Hans A, Maier, Oliver, Mei, Davide, Biskup, Saskia, Klein, Karl M, Reif, Philipp S, Rosenow, Felix, Elias, Abdallah F, Hudson, Cindy, Helbig, Katherine L, Schubert-Bast, Susanne, Scordo, Maria R, Craiu, Dana, Djémié, Tania, Hoffman-Zacharska, Dorota, Caglayan, Hande, Helbig, Ingo, Serratosa, Jose, Striano, Pasquale, De Jonghe, Peter, Weckhuysen, Sarah, Suls, Arvid, Muru, Kai, Talvik, Inga, Talvik, Tiina, Muhle, Hiltrud, Borggraefe, Ingo, Rost, Imma, Guerrini, Renzo, Lerche, Holger, Lemke, Johannes R, Rubboli, Guido, Maljevic, Snezana

“…OBJECTIVE:To delineate phenotypic heterogeneity, we describe the clinical features of a cohort of patients with GABRA1 gene mutations. METHODS:Patients with…”
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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies by Møller, Rikke S, Wuttke, Thomas V, Helbig, Ingo, Marini, Carla, Johannesen, Katrine M, Brilstra, Eva H, Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L, Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T, Larsen, Line H.G, Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L, Dahl, Hans A, Tommerup, Niels, Mefford, Heather C, Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R, Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana

“…OBJECTIVE:To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to…”
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Mutations in KCNT1 cause a spectrum of focal epilepsies by Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh‐Olsen, Bente, Dibbens, Leanne M.

“…Summary Autosomal dominant mutations in the sodium‐gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes,…”
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Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center by Hoelz, Hannes, Herdl, Christian, Gerstl, Lucia, Tacke, Moritz, Vill, Katharina, von Stuelpnagel, Celina, Rost, Imma, Hoertnagel, Konstanze, Abicht, Angela, Hollizeck, Sebastian, Larsen, Line H. G., Borggraefe, Ingo

“…Background. Next-generation sequencing (NGS) describes new powerful techniques of nucleic acid analysis, which allow not only disease gene identification…”
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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy by Møller, Rikke S, Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E Martina, Hiatt, Susan M, Prokop, Jeremy W, Bowling, Kevin M, Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H G, Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M, Baulac, Stéphanie

“…To assess the prevalence of somatic mutations in focal cortical dysplasia (FCD) and of germline mutations in a broad range of epilepsies. We collected 20…”
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PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics by Bayat, Allan, Knaus, Alexej, Juul, Annika Wollenberg, Dukic, Dejan, Gardella, Elena, Charzewska, Agnieszka, Clement, Emma, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Horn, Denise, Horton, Rachel, Hurst, Jane A., Josifova, Dragana, Larsen, Line H. G., Lascelles, Karine, Obersztyn, Ewa, Pagnamenta, Alistair, Pal, Deb K., Pendziwiat, Manuela, Ryten, Mina, Taylor, Jenny, Vogt, Julie, Weber, Yvonne, Krawitz, Peter M., Helbig, Ingo, Kini, Usha, Møller, Rikke S.

“…Purpose To provide a detailed electroclinical description and expand the phenotype of PIGT-CDG, to perform genotype–phenotype correlation, and to investigate…”
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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies by Møller, Rikke S., Larsen, Line H.G., Johannesen, Katrine M., Talvik, Inga, Talvik, Tiina, Vaher, Ulvi, Miranda, Maria J., Farooq, Muhammad, Nielsen, Jens E.K., Lavard Svendsen, Lene, Kjelgaard, Ditte B., Linnet, Karen M., Hao, Qin, Uldall, Peter, Frangu, Mimoza, Tommerup, Niels, Baig, Shahid M., Abdullah, Uzma, Born, Alfred P., Gellert, Pia, Nikanorova, Marina, Olofsson, Kern, Jepsen, Birgit, Marjanovic, Dragan, Al-Zehhawi, Lana I.K., Peñalva, Sofia J., Krag-Olsen, Bente, Brusgaard, Klaus, Hjalgrim, Helle, Rubboli, Guido, Pal, Deb K., Dahl, Hans A.

“…In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since…”
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Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies by Tiefes, Anna M., Hartlieb, Till, Tacke, Moritz, von Stülpnagel-Steinbeis, Celina, Larsen, Line H. G., Hao, Quin, Dahl, Hans Atli, Neubauer, Bernd A., Gerstl, Lucia, Kudernatsch, Manfred, Kluger, Gerhard J., Borggraefe, Ingo

“…Patients with temporal lobe epilepsy (TLE) due to mesial temporal sclerosis (MTS) are eligible candidates for resective epilepsy surgery. We report on 2 male…”
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Identification and Characterization of the Thermus thermophilus 5-Methylcytidine (m5C) Methyltransferase Modifying 23 S Ribosomal RNA (rRNA) Base C1942 by Larsen, Line H.G., Rasmussen, Anette, Giessing, Anders M.B., Jogl, Gerwald, Kirpekar, Finn

“…Methylation of cytidines at carbon-5 is a common posttranscriptional RNA modification encountered across all domains of life. Here, we characterize the…”
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Multi-site-specific 16S rRNA methyltransferase RsmF from Thermus thermophilus by Demirci, Hasan, Larsen, Line H G, Hansen, Trine, Rasmussen, Anette, Cadambi, Ashwin, Gregory, Steven T, Kirpekar, Finn, Jogl, Gerwald

“…Cells devote a significant effort toward the production of multiple modified nucleotides in rRNAs, which fine tune the ribosome function. Here, we report that…”
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Mutations in KCNT 1 cause a spectrum of focal epilepsies by Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., van Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh‐Olsen, Bente, Dibbens, Leanne M.

“…Summary Autosomal dominant mutations in the sodium‐gated potassium channel subunit gene KCNT 1 have been associated with two distinct seizure syndromes,…”
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Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature by Talvik, Inga, Møller, Rikke S., Vaher, Merilin, Vaher, Ulvi, Larsen, Line HG, Dahl, Hans A., Ilves, Pilvi, Talvik, Tiina

“…Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O (GNAO1) gene have recently been described in 6 patients…”
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