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Kovermann, Peter ; Bayat, Allan ; Fenger, Christina D. ; Leeuwen, Lisette ; Borovikov, Artem ; Sharkov, Artem ; Levrat, Virginie ; Lesca, Gaetan ; Perrin, Laurence ; Levy, Jonathan ; Fahlke, Christoph ; Møller, Rikke S. ; Jensen, Anders A.
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Neurogenetics; 1/2/2026, Vol. 26 Issue 1, p1-5, 5p
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Borovikov, Artem; Davydenko, Ksenia; Murtazina, Aysylu; Sharkov, Artem; Kanivets, Ilya; Filatova, Alexandra; Skoblov, Mikhail
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Human Mutation; 2/12/2024, Vol. 2024, p1-13, 13p
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Murtazina, Aysylu; Borovikov, Artem; Marakhonov, Andrey; Sharkov, Artem; Sharkova, Inna; Mirzoyan, Alena; Kulikova, Sviatlana; Ganieva, Ralina; Zabnenkova, Viktoriia; Ryzhkova, Oksana; Nikitin, Sergey; Dadali, Elena; Kutsev, Sergey
Frontiers in Pediatrics; 2024, p1-8, 8p
Academic Journal
Brünger T; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kim S; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Myers SJ; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.; Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.; Stefanski A; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.; Taylor G; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Perez-Palma E; Universidad del Desarrollo, Centro de Genética y Genómica, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana, Santiago de Chile 7610658, Chile.; Macnee M; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.; Schorge S; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.; Dahl RS; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Yuan H; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.; Perszyk RE; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.; Kim S; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.; Bajaj S; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia.; Pan JQ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA.; Farrant M; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.; Wollmuth L; Department of Neurobiology & Behavior and Biochemistry & Cell Biology, Center for Nervous System Disorders, Stony Brook University, Stony Brook, NY, USA.; Wyllie DJA; Institute for Neuroscience and Cardiovascular Research, University of Edinburgh, Edinburgh, UK.; Kurganov E; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA.; Baez D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA.; Zuberi S; School of Health and Wellbeing and Royal Hospital for Children University of Glasgow, Glasgow, UK.; Boßelmann CM; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany.; Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany.; Mantegazza M; Université Côte D'azur, CNRS UMR7275, Inserm U1323, Institute of Molecular and Cellular Pharmacology, Valbonne - Sophia Antipolis, France.; Cestèle S; Université Côte D'azur, CNRS UMR7275, Inserm U1323, Institute of Molecular and Cellular Pharmacology, Valbonne - Sophia Antipolis, France.; May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.; Ivaniuk A; Department of Neurology, Mayo Clinic in Florida, Jacksonville, Fl, 32224, USA.; Meskis MA; Dravet Syndrome Foundation, Cherry Hill, NJ, USA.; Hood V; Dravet Syndrome Foundation, Cherry Hill, NJ, USA.; Schust L; FamilieSCN2A Foundation 501(c)(3), Gettysburg, PA, USA.; Goodspeed K; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Kang JQ; Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37232, USA.; Freed A; SLC6A1 Connect, 1939 Temperence Hill Drive, Frisco, TX 75034, USA.; Gati C; Department of Biological Sciences, Bridge Institute, USC Michelson Center for Convergent Bioscience, University of Southern California, Los Angeles, CA 90089, USA.; Montanucci L; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Wuster A; BioMarin Pharmaceutical Inc., Novato, CA, USA.; Trinidad M; Innovative Genomics Institute, University of California, Berkeley, CA, USA, 94720.; Froelich S; BioMarin Pharmaceutical Inc., Novato, CA, USA.; Deng AT; NHS South East Genomic Medicine Service, Guy's and St Thomas's NHS Foundation Trust, London SE1 9RT, UK.; Serrano ÁA; Epilepsy Program, Neurology Department, Hospital Ruber Internacional, Madrid 28034, Spain.; Borovikov A; Research and Counseling Department, Research Centre for Medical Genetics, Moscow 115478, Russia.; Sharkov A; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University, Russia.; Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics and Genomics, Albany Medical College, Albany Med Health System, Albany, NY 12208, USA.; Pal DK; Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology and Neuroscience, King's College, London SE58AF, UK.; Danvoye L; Department of Neurology, Université catholique de Louvain, Cliniques universitaires Saint-Luc, Brussels 1200, Belgium.; Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Charleroi, Belgium.; Balci TR; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A3K7, Canada.; Department of Pediatrics, Division of Medical Genetics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A3K7, Canada.; Hagebeuk EEO; Stichting Epilepsie Instellingen Nederland (SEIN), Department of Pediatric Neurology, Heemstede, The Netherlands.; Heidlebaugh A; Department of Developmental Medicine, Geisinger, Danville, PA 17837, USA.; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA.; Oetjens K; Department of Developmental Medicine, Geisinger, Danville, PA 17837, USA.; Hoffman TL; Department of Regional Genetics, Anaheim, Southern California Kaiser Permanente Medical Group, CA 92806, USA.; Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; Williams SD; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.; van Engelen K; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A5W9, Canada.; Howell KB; Department of Neurology, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Khoury J; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.; Benke TA; Department of Pediatrics, Neurology and Pharmacology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO, USA.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Ramsey A; Department of Pharmacology & Toxicology, University of Toronto, Toronto, Ontario, Canada.; Manaster L; CACNA1A Foundation, Inc., 31 Point Rd, Norwalk, CT 06854, USA.; Malepati S; CACNA1A Foundation, Inc., 31 Point Rd, Norwalk, CT 06854, USA.; Fox P; CACNA1A Foundation, Inc., 31 Point Rd, Norwalk, CT 06854, USA.; Noebels J; Blue Bird Circle Developmental Neurogenetics Laboratory, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.; Chung W; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Poduri A; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Stripe LL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.; Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.; Cohen S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.; Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Boesch S; Center for rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Wilmarth O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.; Inova Health System, Falls Church, VA, USA.; Prentice AJ; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.; Cha E; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Budnik N; The Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Hommersom MP; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.; Kramer A; Department of Pharmacology and Physiology, University of Maryland School of Medicine, Baltimore, MD 20201, USA.; Vanoye CG; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Zhang GQ; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Nothnagel M; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.; University Hospital Cologne, Medical Faculty, University of Cologne, Cologne, Germany.; Palotie A; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology, and Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.; Daly MJ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA.; George AL Jr; Department of Pharmacology and Physiology, University of Maryland School of Medicine, Baltimore, MD 20201, USA.; Zarate YA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.; Brunklaus A; School of Health and Wellbeing and Royal Hospital for Children University of Glasgow, Glasgow, UK.; Traynelis SF; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.; Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, member of ERN EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Lal D; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA.; Center for Neurogenetics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.; Center for Innovation in Health Informatics, Cook Children's Health Care System, Fort Worth, TX, USA.; Department of Bioengineering and Department of Computer Science and Engineering, University of Texas at Arlington, Arlington, TX, USA.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Baranik, Darya; Sharkov, Artem; Beskorovainyi, Nikita; Zakharova, Ekaterina; Korostelev, Sergey; Skoblov, Mikhail; Sparber, Peter
Academic Journal
Sharkov, Artem; Sparber, Peter; Stepanova, Anna; Pyankov, Denis; Korostelev, Sergei; Skoblov, Mikhail
Frontiers in Genetics; 5/31/2022, p1-8, 8p
Academic Journal
Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Academic Journal
Melikishvili, Gia; Sharkov, Artem; Gachechiladze, Tamar; Tomenko, Tatiana; Pivovarova, Alexandra; Volkov, Iosif; Andrade, Maria-Theresa; Castellanos, Abril; Bienvenu, Thierry; Dulac, Olivier; Roisman, Gabriel; Gataullina, Svetlana
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Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R.; Bernat, John A.; Bombei, Hannah M.; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stobe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, Andre; Schuhmann, Sarah; Krumbiegel, Mandy; Brown, Natasha J.; Sparber, Peter; Melikyan, Lyusya; Bessonova, Liudmila; Cherevatova, Tatiana; Sharkov, Artem; Shcherbakova, Natalia; Dabir, Tabib; Kini, Usha; Schwaibold, Eva M. C.; Haack, Tobias B.; Bertoli, Marta; Hoffjan, Sabine; Falb, Ruth; Shinawi, Marwan; Sticht, Heinrich; Zweier, Christiane
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Nagy, Dora; Verheyen, Sarah; Wigby, Kristen M.; Borovikov, Artem; Sharkov, Artem; Slegesky, Valerie; Larson, Austin; Fagerberg, Christina; Brasch-Andersen, Charlotte; Kibaek, Maria; Bader, Ingrid; Hernan, Rebecca; High, Frances A.; Chung, Wendy K.; Schieving, Jolanda H.; Behunova, Jana; Smogavec, Mateja; Laccone, Franco; Witsch-Baumgartner, Martina; Zobel, Joachim; Duba, Hans-Christoph; Weis, Denisa
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Reale, Chiara; Fenger, Christina Duhring; Neu, Axel; Sukno, Sylvie; McKeown, Sarah; Borovikov, Artem; Gorman, Kathleen; Trivisano, Marina; Lo Barco, Tommaso; Krey, Ilona; Navarro, Isabel Maria Moreno; La Selva, Lorita; Bayat, Allan; Bijlsma, Emilia K.; Rokkjaer, Mette; Borggrafe, Ingo; Sauders, Carol J.; Yis, Uluc; Ram, Dipak; Bierhals, Tatjana; Francannet, Christine; Bonardi, Claudia M.; Goldenberg, Alice; Dadali, Elena; Green, Andrew; Cohen, Roni; Muhle, Hiltrud; Beniczky, Sandor; Massingham, Laure; Fusco, Carlo; Specchio, Nicola; Allen, Nicholas M.; Cantalupo, Gaetano; Sharkov, Artem; Helbig, Ingo; Gerard, Benedicte; Lessel, Davor; Rubboli, Guido; Moeller, Rikke Steensbjerre; Gardella, Elena; McKeowns, Sarah; Furia, Francesca; Afawi, Zaid; Bernardina, Bernardo Dalla; Campbell, Ww; Fiedler, Barbara; Fontana, Elena; Hall, Ara S.; Hoi-Hansen, Christina; Klein, Karl Martin; King, Mary; Lynch, Bryan; Lemke, Johannes; Gaudda, Ama; Nikanorova, Marina; Rahner, Mils; Spagnoli, Carlotta; Banka, Siddarth; Pendziwiat, Manuela
Reale, C, Fenger, C D, Neu, A, Sukno, S, McKeown, S, Borovikov, A, Gorman, K, Trivisano, M, Lo Barco, T, Krey, I, Navarro, I M M, La Selva, L, Bayat, A, Bijlsma, E K, Rokkjaer, M, Borggrafe, I, Sauders, C J, Yis, U, Ram, D, Bierhals, T, Francannet, C, Bonardi, C M, Goldenberg, A, Dadali, E, Green, A, Cohen, R, Muhle, H, Beniczky, S, Massingham, L, Fusco, C, Specchio, N, Allen, N M, Cantalupo, G, Sharkov, A, Helbig, I, Gerard, B, Lessel, D, Rubboli, G, Moeller, R S, Gardella, E, McKeowns, S, Furia, F, Afawi, Z, Bernardina, B D, Campbell, W, Fiedler, B, Fontana, E, Hall, A S, Hoi-Hansen, C, Klein, K M, King, M, Lynch, B, Lemke, J, Gaudda, A, Nikanorova, M, Rahner, M, Spagnoli, C, Banka, S & Pendziwiat, M 2021, ' The KCNB1 phenotypic and genetic spectrum ', Epilepsia, vol. 62, no. Suppl. 3, pp. 222-223 . https://doi.org/10.1111/epi.17079
Academic Journal
Johannesen, Katrine Marie; Liu, Yuanyuan; Gjerulfsen, Catherine E.; Koko, Mahmoud; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina Duhring; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils; Lauxmann, Stephan; Krueger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, Petra; Vlckova, Marketa; Lemke, Johannes; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell, Judith; Lund, Caroline; Klein, Karl Martin; Au, Py Billie; Rho, Jong; Ho, Alice; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoi-Hansen, Christina; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S.; van der Zwaag, Bert; Harder, Aster; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastien; Vaccarezza, Maria; Ngoc Minh Le; Christensen, Jakob; Schmidt-Petersen, Mette; Gronborg, Sabine; Scherer, Stephen; Howe, Jennifer; Fazeli, Walid; Howell, Katherine; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caumes, Roseline; Roubertie, Agathe; Gelisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Koch-Hogrebe, Margarete; Perry, Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E.; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann; Mueller-Schlueter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddarth; Tan, Wen-Hann; Olson, Heather; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark; Goldberg, Ethan M.; Roser, Timo; Borggrafe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Lesca, Gaetan; Hedrich, Ulrike; Benda, Jan; Gardella, Elena; Lerche, Holger; Moeller, Rikke Steensbjerre
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