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Reply.
Published in:
2016
By:
- Gardella, Elena;
- Beniczky, Sándor;
- Møller, Rikke S.;
- Becker, Felicitas;
- Lemke, Johannes R.;
- Syrbe, Steffen;
- Eiberg, Hans;
- Bast, Thomas;
- Steinhoff, Bernhard;
- Nürnberg, Peter;
- Gellert, Pia;
- Dahl, Hans Atli;
- Weckhuysen, Sarah;
- Heron, Sarah E.;
- Dibbens, Leanne M.;
- Hjalgrim, Helle;
- Lerche, Holger;
- Weber, Yvonne G.;
- Beniczky, Sándor;
- Møller, Rikke S
Publication type:
Letter
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Published in:
Neurological Sciences, 2023, v. 44, n. 6, p. 2173, doi. 10.1007/s10072-023-06735-7
By:
- Cossu, Alberto;
- Santos, Joana L.;
- Galati, Giulia;
- Nikanorova, Marina;
- Costa, Paola;
- Mang, Yuan;
- Silahtaroglu, Asli;
- Rubboli, Guido;
- Tommerup, Niels;
- Dalla Bernardina, Bernardo;
- Møller, Rikke S.;
- Cantalupo, Gaetano;
- Gardella, Elena
Publication type:
Article
Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06324-2
By:
- Shakeshaft, Amy;
- Panjwani, Naim;
- Collingwood, Amber;
- Crudgington, Holly;
- Hall, Anna;
- Andrade, Danielle M.;
- Beier, Christoph P.;
- Fong, Choong Yi;
- Gardella, Elena;
- Gesche, Joanna;
- Greenberg, David A.;
- Hamandi, Khalid;
- Koht, Jeanette;
- Lim, Kheng Seang;
- Møller, Rikke S.;
- Ng, Ching Ching;
- Orsini, Alessandro;
- Rees, Mark I.;
- Rubboli, Guido;
- Selmer, Kaja K.
Publication type:
Article
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
Published in:
Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.663643
By:
- Bayat, Allan;
- Pendziwiat, Manuela;
- Obersztyn, Ewa;
- Goldenberg, Paula;
- Zacher, Pia;
- Döring, Jan Henje;
- Syrbe, Steffen;
- Begtrup, Amber;
- Borovikov, Artem;
- Sharkov, Artem;
- Karasińska, Aneta;
- Giżewska, Maria;
- Mitchell, Wendy;
- Morava, Eva;
- Møller, Rikke S.;
- Rubboli, Guido
Publication type:
Article
Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies.
Published in:
Journal of Child Neurology, 2014, v. 29, n. 5, p. 704, doi. 10.1177/0883073813505354
By:
- Baumgart, Anna;
- Spiczak, Sarah von;
- Verhoeven-Duif, Nanda M.;
- Møller, Rikke S.;
- Boor, Rainer;
- Muhle, Hiltrud;
- Jähn, Johanna A.;
- Klitten, Laura L.;
- Hjalgrim, Helle;
- Lindhout, Dick;
- Stephani, Ulrich;
- van Kempen, Marjan J. A.;
- Helbig, Ingo
Publication type:
Article
Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 224, doi. 10.1093/brain/awad285
By:
- Lin, Susan X N;
- Ahring, Philip K;
- Keramidas, Angelo;
- Liao, Vivian W Y;
- Møller, Rikke S;
- Chebib, Mary;
- Absalom, Nathan L
Publication type:
Article
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3885, doi. 10.1093/brain/awad111
By:
- Custodio, Helena Martins;
- Clayton, Lisa M;
- Bellampalli, Ravishankara;
- Pagni, Susanna;
- Silvennoinen, Katri;
- Caswell, Richard;
- Consortium, Genomics England Research;
- Brunklaus, Andreas;
- Guerrini, Renzo;
- Koeleman, Bobby P C;
- Lemke, Johannes R;
- Møller, Rikke S;
- Scheffer, Ingrid E;
- Weckhuysen, Sarah;
- Zara, Federico;
- Zuberi, Sameer;
- Kuchenbaecker, Karoline;
- Balestrini, Simona;
- Mills, James D;
- Sisodiya, Sanjay M
Publication type:
Article
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 923, doi. 10.1093/brain/awac305
By:
- Brünger, Tobias;
- Pérez-Palma, Eduardo;
- Montanucci, Ludovica;
- Nothnagel, Michael;
- Møller, Rikke S;
- Schorge, Stephanie;
- Zuberi, Sameer;
- Symonds, Joseph;
- Lemke, Johannes R;
- Brunklaus, Andreas;
- Traynelis, Stephen F;
- May, Patrick;
- Lal, Dennis
Publication type:
Article
Reply: Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.
Published in:
2022
By:
- Johannesen, Katrine M.;
- Liu, Yuanyuan;
- Gardella, Elena;
- Lerche, Holger;
- Møller, Rikke S.
Publication type:
Editorial
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Published in:
2021
By:
- Vetro, Annalisa;
- Nielsen, Hang N;
- Holm, Rikke;
- Hevner, Robert F;
- Parrini, Elena;
- Powis, Zoe;
- Møller, Rikke S;
- Bellan, Cristina;
- Simonati, Alessandro;
- Lesca, Gaétan;
- Helbig, Katherine L;
- Palmer, Elizabeth E;
- Mei, Davide;
- Ballardini, Elisa;
- Haeringen, Arie Van;
- Syrbe, Steffen;
- Leuzzi, Vincenzo;
- Cioni, Giovanni;
- Curry, Cynthia J;
- Costain, Gregory
Publication type:
journal article
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.
Published in:
2020
By:
- López-Rivera, Javier A;
- Pérez-Palma, Eduardo;
- Symonds, Joseph;
- Lindy, Amanda S;
- McKnight, Dianalee A;
- Leu, Costin;
- Zuberi, Sameer;
- Brunklaus, Andreas;
- Møller, Rikke S;
- Lal, Dennis
Publication type:
journal article
The first step towards personalized risk prediction for common epilepsies.
Published in:
2019
By:
- Hansen, Thomas F;
- Møller, Rikke S
Publication type:
journal article
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Published in:
2019
By:
- Liu, Yuanyuan;
- Schubert, Julian;
- Sonnenberg, Lukas;
- Helbig, Katherine L;
- Hoei-Hansen, Christina E;
- Koko, Mahmoud;
- Rannap, Maert;
- Lauxmann, Stephan;
- Huq, Mahbubul;
- Schneider, Michael C;
- Johannesen, Katrine M;
- Kurlemann, Gerhard;
- Gardella, Elena;
- Becker, Felicitas;
- Weber, Yvonne G;
- Benda, Jan;
- Møller, Rikke S;
- Lerche, Holger
Publication type:
journal article
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Published in:
Brain: A Journal of Neurology, 2015, v. 138, n. 5, p. 1198, doi. 10.1093/brain/awv052
By:
- Galizia, Elizabeth C.;
- Myers, Candace T.;
- Leu, Costin;
- de Kovel, Carolien G. F.;
- Afrikanova, Tatiana;
- Cordero-Maldonado, Maria Lorena;
- Martins, Teresa G.;
- Jacmin, Maxime;
- Drury, Suzanne;
- Krishna Chinthapalli, V.;
- Muhle, Hiltrud;
- Pendziwiat, Manuela;
- Sander, Thomas;
- Ruppert, Ann-Kathrin;
- Møller, Rikke S.;
- Thiele, Holger;
- Krause, Roland;
- Schubert, Julian;
- Lehesjoki, Anna-Elina;
- Nürnberg, Peter
Publication type:
Article
Mutations in KCNT1 cause a spectrum of focal epilepsies.
Published in:
Epilepsia (Series 4), 2015, v. 56, n. 9, p. e114, doi. 10.1111/epi.13071
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.
Publication type:
Article
The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009.
Published in:
Epilepsia (Series 4), 2015, v. 56, n. 4, p. e36, doi. 10.1111/epi.12927
By:
- Bayat, Allan;
- Hjalgrim, Helle;
- Møller, Rikke S.
Publication type:
Article
Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-Convergence on axonal guidance.
Published in:
Epilepsia (Series 4), 2014, v. 55, n. 12, p. 2017, doi. 10.1111/epi.12839
By:
- Kaalund, Sanne S.;
- Venø, Morten T.;
- Bak, Mads;
- Møller, Rikke S.;
- Laursen, Henning;
- Madsen, Flemming;
- Broholm, Helle;
- Quistorff, Bjørn;
- Uldall, Peter;
- Tommerup, Niels;
- Kauppinen, Sakari;
- Sabers, Anne;
- Fluiter, Kees;
- Møller, Lisbeth B.;
- Nossent, Anne Y.;
- Silahtaroglu, Asli;
- Kjems, Jørgen;
- Aronica, Eleonora;
- Tümer, Zeynep
Publication type:
Article
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 5, p. e74, doi. 10.1111/epi.12124
By:
- Weckhuysen, Sarah;
- Holmgren, Philip;
- Hendrickx, Rik;
- Jansen, Anna C.;
- Hasaerts, Daniele;
- Dielman, Charlotte;
- Bellescize, Julitta;
- Boutry‐Kryza, Nadia;
- Lesca, Gaetan;
- Spiczak, Sarah Von;
- Helbig, Ingo;
- Gill, Deepak;
- Yendle, Simone;
- Møller, Rikke S.;
- Klitten, Laura;
- Korff, Christian;
- Godfraind, Catherine;
- Rijckevorsel, Kenou;
- Jonghe, Peter;
- Hjalgrim, Helle
Publication type:
Article
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 2, p. 265, doi. 10.1111/epi.12084
By:
- Lal, Dennis;
- Trucks, Holger;
- Møller, Rikke S.;
- Hjalgrim, Helle;
- Koeleman, Bobby P. C.;
- Kovel, Carolien G. F.;
- Visscher, Frank;
- Weber, Yvonne G.;
- Lerche, Holger;
- Becker, Felicitas;
- Schankin, Christoph J.;
- Neubauer, Bernd A.;
- Surges, Rainer;
- Kunz, Wolfram S.;
- Zimprich, Fritz;
- Franke, Andre;
- Illig, Thomas;
- Ried, Janina S.;
- Leu, Costin;
- Nürnberg, Peter
Publication type:
Article
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 2, p. 256, doi. 10.1111/epi.12078
By:
- Møller, Rikke S.;
- Weber, Yvonne G.;
- Klitten, Laura L.;
- Trucks, Holger;
- Muhle, Hiltrud;
- Kunz, Wolfram S.;
- Mefford, Heather C.;
- Franke, Andre;
- Kautza, Monika;
- Wolf, Peter;
- Dennig, Dieter;
- Schreiber, Stefan;
- Rückert, Ina‐Maria;
- Wichmann, H.‐Erich;
- Ernst, Jan P.;
- Schurmann, Claudia;
- Grabe, Hans J.;
- Tommerup, Niels;
- Stephani, Ulrich;
- Lerche, Holger
Publication type:
Article
A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 12, p. e190, doi. 10.1111/j.1528-1167.2011.03304.x
By:
- Klitten, Laura L.;
- Møller, Rikke S.;
- Nikanorova, Marina;
- Silahtaroglu, Asli;
- Hjalgrim, Helle;
- Tommerup, Niels
Publication type:
Article
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
Published in:
Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1091, doi. 10.1111/j.1528-1167.2008.01550.x
By:
- Møller, Rikke S.;
- Schneider, Lizette M.;
- Hansen, Christian P.;
- Bugge, Merete;
- Ullmann, Reinhard;
- Tommerup, Niels;
- Tümer, Zeynep
Publication type:
Article
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 15133, doi. 10.3390/ijms232315133
By:
- Rychkov, Grigori Y.;
- Shaukat, Zeeshan;
- Lim, Chiao Xin;
- Hussain, Rashid;
- Roberts, Ben J.;
- Bonardi, Claudia M.;
- Rubboli, Guido;
- Meaney, Brandon F.;
- Whitney, Robyn;
- Møller, Rikke S.;
- Ricos, Michael G.;
- Dibbens, Leanne M.
Publication type:
Article
Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2824, doi. 10.3390/ijms22062824
By:
- Döring, Jan H.;
- Schröter, Julian;
- Jüngling, Jerome;
- Biskup, Saskia;
- Klotz, Kerstin A.;
- Bast, Thomas;
- Dietel, Tobias;
- Korenke, G. Christoph;
- Christoph, Sophie;
- Brennenstuhl, Heiko;
- Rubboli, Guido;
- Møller, Rikke S.;
- Lesca, Gaetan;
- Chaix, Yves;
- Kölker, Stefan;
- Hoffmann, Georg F.;
- Lemke, Johannes R.;
- Syrbe, Steffen;
- Imbrici, Paola
Publication type:
Article
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Published in:
Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0803-0
By:
- Kolc, Kristy L.;
- Sadleir, Lynette G.;
- Depienne, Christel;
- Marini, Carla;
- Scheffer, Ingrid E.;
- Møller, Rikke S.;
- Trivisano, Marina;
- Specchio, Nicola;
- Pham, Duyen;
- Kumar, Raman;
- Roberts, Rachel;
- Gecz, Jozef
Publication type:
Article
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29280-x
By:
- Absalom, Nathan L.;
- Liao, Vivian W. Y.;
- Johannesen, Katrine M. H.;
- Gardella, Elena;
- Jacobs, Julia;
- Lesca, Gaetan;
- Gokce-Samar, Zeynep;
- Arzimanoglou, Alexis;
- Zeidler, Shimriet;
- Striano, Pasquale;
- Meyer, Pierre;
- Benkel-Herrenbrueck, Ira;
- Mero, Inger-Lise;
- Rummel, Jutta;
- Chebib, Mary;
- Møller, Rikke S.;
- Ahring, Philip K.
Publication type:
Article
Erratum: Sequence analysis of 17 NRXN1 deletions.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 3, p. 261, doi. 10.1002/ajmg.b.32226
By:
- Hoeffding, Louise K.;
- Hansen, Thomas;
- Ingason, Andrés;
- Doung, Linh;
- Thygesen, Johan H.;
- Møller, Rikke S.;
- Tommerup, Niels;
- Kirov, George;
- Rujescu, Dan;
- Larsen, Lars A.;
- Werge, Thomas
Publication type:
Article
Sequence analysis of 17 NRXN1 deletions.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 1, p. 52, doi. 10.1002/ajmg.b.32204
By:
- Hoeffding, Louise Kristine Enggaard;
- Hansen, Thomas;
- Ingason, Andrés;
- Doung, Linh;
- Thygesen, Johan H.;
- Møller, Rikke S.;
- Tommerup, Niels;
- Kirov, George;
- Rujescu, Dan;
- Larsen, Lars A.;
- Werge, Thomas
Publication type:
Article
Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 3, p. 354, doi. 10.1002/ajmg.b.32036
By:
- Duong, Linh;
- Klitten, Laura L.;
- Møller, Rikke S.;
- Ingason, Andrés;
- Jakobsen, Klaus D.;
- Skjødt, Celina;
- Didriksen, Michael;
- Hjalgrim, Helle;
- Werge, Thomas;
- Tommerup, Niels
Publication type:
Article
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Published in:
Nature Genetics, 2014, v. 46, n. 12, p. 1327, doi. 10.1038/ng.3130
By:
- Schubert, Julian;
- Becker, Felicitas;
- Weber, Yvonne G;
- Lerche, Holger;
- Thiele, Holger;
- Konrad, Kathryn;
- Kawalia, Amit;
- Toliat, Mohammad R;
- Sander, Thomas;
- Rüschendorf, Franz;
- Caliebe, Almuth;
- Nagel, Inga;
- Kohl, Bernard;
- Riesch, Erik;
- Dorn, Thomas;
- Baulac, Stephanie;
- Møller, Rikke S;
- Hjalgrim, Helle;
- Jurkat-Rott, Karin;
- Lehman-Horn, Frank
Publication type:
Article
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Published in:
Bioinformatics, 2023, v. 39, n. 5, p. 1, doi. 10.1093/bioinformatics/btad290
By:
- Macnee, Marie;
- Pérez-Palma, Eduardo;
- Brünger, Tobias;
- Klöckner, Chiara;
- Platzer, Konrad;
- Stefanski, Arthur;
- Montanucci, Ludovica;
- Bayat, Allan;
- Radtke, Maximilian;
- Collins, Ryan L;
- Talkowski, Michael;
- Blankenberg, Daniel;
- Møller, Rikke S;
- Lemke, Johannes R;
- Nothnagel, Michael;
- May, Patrick;
- Lal, Dennis
Publication type:
Article
Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.
Published in:
Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02783-5
By:
- de Nys, Rebekah;
- van Eyk, Clare L.;
- Ritchie, Tarin;
- Møller, Rikke S.;
- Scheffer, Ingrid E.;
- Marini, Carla;
- Bhattacharjee, Rudrarup;
- Kumar, Raman;
- Gecz, Jozef
Publication type:
Article
Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies.
Published in:
Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.777115
By:
- Beltrán-Corbellini, Álvaro;
- Aledo-Serrano, Ángel;
- Møller, Rikke S.;
- Pérez-Palma, Eduardo;
- García-Morales, Irene;
- Toledano, Rafael;
- Gil-Nagel, Antonio
Publication type:
Article
<i>RBFOX1</i> and <i>RBFOX3</i> Mutations in Rolandic Epilepsy.
Published in:
PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073323
By:
- Lal, Dennis;
- Reinthaler, Eva M.;
- Altmüller, Janine;
- Toliat, Mohammad R.;
- Thiele, Holger;
- Nürnberg, Peter;
- Lerche, Holger;
- Hahn, Andreas;
- Møller, Rikke S.;
- Muhle, Hiltrud;
- Sander, Thomas;
- Zimprich, Fritz;
- Neubauer, Bernd A.
Publication type:
Article
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Published in:
NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0052-9
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.
Publication type:
Article
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.149
By:
- Klitten, Laura L.;
- Møller, Rikke S.;
- Ravn, Kirstine;
- Hjalgrim, Helle;
- Tommerup, Niels
Publication type:
Article
Fenfluramine treatment in pediatric patients with Dravet syndrome reduces seizure burden and overall healthcare costs: A retrospective and observational real‐world study.
Published in:
Epilepsia Open, 2024, v. 9, n. 5, p. 1891, doi. 10.1002/epi4.13029
By:
- Gjerulfsen, Cathrine E.;
- Nikanorova, Marina;
- Olofsson, Kern;
- Johannessen Landmark, Cecilie;
- Rubboli, Guido;
- Møller, Rikke S.
Publication type:
Article
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.
Published in:
Epilepsia Open, 2024, v. 9, n. 3, p. 832, doi. 10.1002/epi4.12914
By:
- Amin, Sam;
- Møller, Rikke S.;
- Aledo‐Serrano, Angel;
- Arzimanoglou, Alexis;
- Bager, Patrick;
- Jóźwiak, Sergiusz;
- Kluger, Gerhard Josef;
- López‐Cabeza, Sandra;
- Nabbout, Rima;
- Partridge, Carol‐Anne;
- Schubert‐Bast, Susanne;
- Specchio, Nicola;
- Kälviäinen, Reetta
Publication type:
Article
‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1146, doi. 10.1093/brain/awt021
By:
- Boissé Lomax, Lysa;
- Bayly, Marta A.;
- Hjalgrim, Helle;
- Møller, Rikke S.;
- Vlaar, Annemarie M.;
- Aaberg, Kari M.;
- Marquardt, Iris;
- Gandolfo, Luke C.;
- Willemsen, Michèl;
- Kamsteeg, Erik-Jan;
- O’Sullivan, John D.;
- Korenke, G. Christoph;
- Bloem, Bastiaan R.;
- de Coo, Irenaeus F.;
- Verhagen, Judith M. A.;
- Said, Ines;
- Prescott, Trine;
- Stray-Pedersen, Asbjørg;
- Rasmussen, Magnhild;
- Vears, Danya F.
Publication type:
Article
Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies.
Published in:
Epilepsia (Series 4), 2024, v. 65, n. 4, p. 1046, doi. 10.1111/epi.17882
By:
- Gallagher, Declan;
- Pérez‐Palma, Eduardo;
- Bruenger, Tobias;
- Ghanty, Ismael;
- Brilstra, Eva;
- Ceulemans, Berten;
- Chemaly, Nicole;
- de Lange, Iris;
- Depienne, Christel;
- Guerrini, Renzo;
- Mei, Davide;
- Møller, Rikke S.;
- Nabbout, Rima;
- Regan, Brigid M.;
- Schneider, Amy L.;
- Scheffer, Ingrid E.;
- Schoonjans, An‐Sofie;
- Symonds, Joseph D.;
- Weckhuysen, Sarah;
- Zuberi, Sameer M.
Publication type:
Article
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 8, p. e170, doi. 10.1111/epi.17634
By:
- Gardella, Elena;
- Michelucci, Roberto;
- Christensen, Hanne M.;
- Fenger, Christina D.;
- Reale, Chiara;
- Riguzzi, Patrizia;
- Pasini, Elena;
- Albini‐Riccioli, Luca;
- Papa, Valentina;
- Foschini, Maria Pia;
- Cenacchi, Giovanna;
- Furia, Francesca;
- Marjanovic, Dragan;
- Hammer, Trine B.;
- Møller, Rikke S.;
- Rubboli, Guido
Publication type:
Article
The de novo GABRA4 p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits.
Published in:
Epilepsia (Series 4), 2022, v. 63, n. 9, p. 2439, doi. 10.1111/epi.17358
By:
- Ahring, Philip K.;
- Liao, Vivian W. Y.;
- Lin, Susan;
- Absalom, Nathan L.;
- Chebib, Mary;
- Møller, Rikke S.
Publication type:
Article
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2474, doi. 10.1111/epi.16699
By:
- Matricardi, Sara;
- De Liso, Paola;
- Freri, Elena;
- Costa, Paola;
- Castellotti, Barbara;
- Magri, Stefania;
- Gellera, Cinzia;
- Granata, Tiziana;
- Musante, Luciana;
- Lesca, Gaetan;
- Oertel, Julie;
- Craiu, Dana;
- Hammer, Trine B.;
- Møller, Rikke S.;
- Barisic, Nina;
- Abou Jamra, Rami;
- Polster, Tilman;
- Vigevano, Federico;
- Marini, Carla
Publication type:
Article
Genetic testing in adult epilepsy patients: A call to action for clinicians.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 9, p. 2055, doi. 10.1111/epi.16639
By:
- Rubboli, Guido;
- Møller, Rikke S.;
- Johannesen, Katrine M.
Publication type:
Article
Utility of genetic testing for therapeutic decision‐making in adults with epilepsy.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 6, p. 1234, doi. 10.1111/epi.16533
By:
- Johannesen, Katrine M.;
- Nikanorova, Natalya;
- Marjanovic, Dragan;
- Pavbro, Agnieszka;
- Larsen, Line H. G.;
- Rubboli, Guido;
- Møller, Rikke S.
Publication type:
Article
Testing association of rare genetic variants with resistance to three common antiseizure medications.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 4, p. 657, doi. 10.1111/epi.16467
By:
- Wolking, Stefan;
- Moreau, Claudia;
- Nies, Anne T.;
- Schaeffeler, Elke;
- McCormack, Mark;
- Auce, Pauls;
- Avbersek, Andreja;
- Becker, Felicitas;
- Krenn, Martin;
- Møller, Rikke S.;
- Nikanorova, Marina;
- Weber, Yvonne G.;
- Weckhuysen, Sarah;
- Cavalleri, Gianpiero L.;
- Delanty, Norman;
- Depondt, Chantal;
- Johnson, Michael R.;
- Koeleman, Bobby P.C.;
- Kunz, Wolfram S.;
- Marson, Anthony G.
Publication type:
Article
Phenotypic and genetic spectrum of SCN8A‐related disorders, treatment options, and outcomes.
Published in:
Epilepsia (Series 4), 2020, v. 60, p. S77, doi. 10.1111/epi.16319
By:
- Gardella, Elena;
- Møller, Rikke S.
Publication type:
Article
Phenotypic and genetic spectrum of SCN8A‐related disorders, treatment options, and outcomes.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 3, p. S77, doi. 10.1111/epi.16319
By:
- Gardella, Elena;
- Møller, Rikke S.
Publication type:
Article
Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopathy.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 11, p. 2277, doi. 10.1111/epi.16371
By:
- Wengert, Eric R.;
- Tronhjem, Cathrine E.;
- Wagnon, Jacy L.;
- Johannesen, Katrine M.;
- Petit, Hayley;
- Krey, Ilona;
- Saga, Anusha U.;
- Panchal, Payal S.;
- Strohm, Samantha M.;
- Lange, Jörn;
- Kamphausen, Susanne B.;
- Rubboli, Guido;
- Lemke, Johannes R.;
- Gardella, Elena;
- Patel, Manoj K.;
- Meisler, Miriam H.;
- Møller, Rikke S.
Publication type:
Article
Parental mosaicism in epilepsies due to alleged de novo variants.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 6, p. e63, doi. 10.1111/epi.15187
By:
- Møller, Rikke S.;
- Zacher, Pia;
- Syrbe, Steffen;
- Liebmann, Nora;
- Stiller, Mathias;
- Hentschel, Julia;
- Lemke, Johannes R.;
- Larsen, Line H. G.;
- Kako, Nahrain;
- Dahl, Hans A.;
- Abdin, Dalia;
- Di Donato, Nataliya;
- Pal, Deb K.
Publication type:
Article

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