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Epilepsia, ISSN 0013-9580, 10/2017, Volume 58, Issue 10, pp. 1734 - 1741
Summary Objective Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE‐HS) is a common epilepsy syndrome that is often poorly controlled by... 
Drug response | Efficacy | Adverse drug reactions | Retention | Seizure freedom | CONTROLLED-TRIAL | REFRACTORY EPILEPSY | PROGNOSIS | LOCALIZATION-RELATED EPILEPSY | TOPIRAMATE | RETENTION RATES | NATURAL-HISTORY | CLINICAL NEUROLOGY | THERAPY | LAMOTRIGINE | RESISTANT EPILEPSY | Pregabalin - therapeutic use | Triazines - therapeutic use | Humans | Middle Aged | Epilepsy, Temporal Lobe - drug therapy | Epilepsy, Temporal Lobe - physiopathology | Male | Sclerosis | Young Adult | Amines - therapeutic use | Vision Disorders - chemically induced | Adult | Female | Valproic Acid - therapeutic use | Retrospective Studies | gamma-Aminobutyric Acid - therapeutic use | Epilepsy, Temporal Lobe - pathology | Databases, Factual | Diplopia - chemically induced | Cyclohexanecarboxylic Acids - therapeutic use | Carbamazepine - analogs & derivatives | Vertigo - chemically induced | Dizziness - chemically induced | Anticonvulsants - therapeutic use | Carbamazepine - therapeutic use | Treatment Outcome | Hippocampus - pathology | Lethargy - chemically induced | Fructose - therapeutic use | Fructose - analogs & derivatives | Vigabatrin - therapeutic use | Adolescent | Aged | Ataxia - chemically induced | Benzodiazepines - therapeutic use | Medical research | Care and treatment | Anticonvulsants | Medicine, Experimental | Temporal lobe epilepsy | Seizures (Medicine) | Comparative analysis | Topiramate | Temporal lobe | Gabapentin | Epilepsy | Clinical trials | Valproic acid | Antiepileptic agents | Carbamazepine | Vertigo | Oxcarbazepine | Convulsions & seizures | Drowsiness | Ataxia | Hippocampus | Lamotrigine
Journal Article
by Baldassari, Sara and Picard, Fabienne and Verbeek, Nienke E and van Kempen, Marjan and Brilstra, Eva H and Lesca, Gaetan and Conti, Valerio and Guerrini, Renzo and Bisulli, Francesca and Licchetta, Laura and Pippucci, Tommaso and Tinuper, Paolo and Hirsch, Edouard and de Saint Martin, Anne and Chelly, Jamel and Rudolf, Gabrielle and Chipaux, Mathilde and Ferrand-Sorbets, Sarah and Dorfmüller, Georg and Sisodiya, Sanjay and Balestrini, Simona and Schoeler, Natasha and Hernandez-Hernandez, Laura and Krithika, S and Oegema, Renske and Hagebeuk, Eveline and Gunning, Boudewijn and Deckers, Charles and Berghuis, Bianca and Wegner, Ilse and Niks, Erik and Jansen, Floor E and Braun, Kees and de Jong, Daniëlle and Rubboli, Guido and Talvik, Inga and Sander, Valentin and Uldall, Peter and Jacquemont, Marie-Line and Nava, Caroline and Leguern, Eric and Julia, Sophie and Gambardella, Antonio and d’Orsi, Giuseppe and Crichiutti, Giovanni and Faivre, Laurence and Darmency, Veronique and Benova, Barbora and Krsek, Pavel and Biraben, Arnaud and Lebre, Anne-Sophie and Jennesson, Mélanie and Sattar, Shifteh and Marchal, Cécile and Nordli, Douglas R and Lindstrom, Kristin and Striano, Pasquale and Lomax, Lysa Boissé and Kiss, Courtney and Bartolomei, Fabrice and Lepine, Anne Fabienne and Schoonjans, An-Sofie and Stouffs, Katrien and Jansen, Anna and Panagiotakaki, Eleni and Ricard-Mousnier, Brigitte and Thevenon, Julien and de Bellescize, Julitta and Catenoix, Hélène and Dorn, Thomas and Zenker, Martin and Müller-Schlüter, Karen and Brandt, Christian and Krey, Ilona and Polster, Tilman and Wolff, Markus and Balci, Meral and Rostasy, Kevin and Achaz, Guillaume and Zacher, Pia and Becher, Thomas and Cloppenborg, Thomas and Yuskaitis, Christopher J and Weckhuysen, Sarah and Poduri, Annapurna and Lemke, Johannes R and Møller, Rikke S and Baulac, Stéphanie
Genetics in Medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 398 - 408
Purpose: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative... 
Genetic focal epilepsy | mTORC1 pathway | Focal cortical dysplasia | SUDEP | DEPDC5 | FAMILIAL FOCAL EPILEPSY | MAMMALIAN TARGET | CORTICAL DYSPLASIA | COMPLEX | DEPDC5 MUTATIONS | MODEL | SUDDEN UNEXPECTED DEATH | GTPASES | GENETICS | GENES | GENETICS & HEREDITY | Life Sciences | Genetics | Human genetics | focal cortical dysplasia | genetic focal epilepsy
Journal Article
by Abou-Khalil, Bassel and Auce, Pauls and Avbersek, Andreja and Bahlo, Melanie and Balding, David J and Bast, Thomas and Baum, Larry and Becker, Albert J and Becker, Felicitas and Berghuis, Bianca and Berkovic, Samuel F and Boysen, Katja E and Bradfield, Jonathan P and Brody, Lawrence C and Buono, Russell J and Campbell, Ellen and Cascino, Gregory D and Catarino, Claudia B and Cavalleri, Gianpiero L and Cherny, Stacey S and Chinthapalli, Krishna and Coffey, Alison J and Compston, Alastair and Coppola, Antonietta and Cossette, Patrick and Craig, John J and de Haan, Gerrit-Jan and De Jonghe, Peter and de Kovel, Carolien G. F and Delanty, Norman and Depondt, Chantal and Devinsky, Orrin and Dlugos, Dennis J and Doherty, Colin P and Elger, Christian E and Eriksson, Johan G and Ferraro, Thomas N and Feucht, Martha and Francis, Ben and Franke, Andre and French, Jacqueline A and Freytag, Saskia and Gaus, Verena and Geller, Eric B and Gieger, Christian and Glauser, Tracy and Glynn, Simon and Goldstein, David B and Gui, Hongsheng and Guo, Youling and Haas, Kevin F and Hakonarson, Hakon and Hallmann, Kerstin and Haut, Sheryl and Heinzen, Erin L and Helbig, Ingo and Hengsbach, Christian and Hjalgrim, Helle and Iacomino, Michele and Ingason, Andrés and Jamnadas-Khoda, Jennifer and Johnson, Michael R and Kälviäinen, Reetta and Kantanen, Anne-Mari and Kasperavičiūte, Dalia and Kasteleijn-Nolst Trenite, Dorothee and Kirsch, Heidi E and Knowlton, Robert C and Koeleman, Bobby P. C and Krause, Roland and Krenn, Martin and Kunz, Wolfram S and Kuzniecky, Ruben and Kwan, Patrick and Lal, Dennis and Lau, Yu-Lung and Lehesjoki, Anna-Elina and Lerche, Holger and Leu, Costin and Lieb, Wolfgang and Lindhout, Dick and Lo, Warren D and Lopes-Cendes, Iscia and Lowenstein, Daniel H and Malovini, Alberto and Marson, Anthony G and Mayer, Thomas and McCormack, Mark and Mills, James L and Mirza, Nasir and Moerzinger, Martina and Møller, Rikke S and Molloy, Anne M and Muhle, Hiltrud and Newton, Mark and Ng, Ping-Wing and Nöthen, Markus M and Nürnberg, Peter and O’Brien, Terence J and Oliver, Karen L and ... and Int League Against Epilepsy Conso and International League Against Epilepsy Consortium on Complex Epilepsies and The International League Against Epilepsy Consortium on Complex Epilepsies
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 5269 - 15
The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report a genome-wide mega-analysis involving... 
FRONTAL-LOBE | METAANALYSIS | ILAE COMMISSION | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY LOCI | GENETIC ARCHITECTURE | ABSENCE | LD SCORE REGRESSION | SNP HERITABILITY | ASSOCIATION | EXPRESSION | Brain | Transcription factors | Coding | Epilepsy | Genes | Genomes | Single-nucleotide polymorphism | Heritability | Gene expression | Metabolism | Antiepileptic agents | Loci
Journal Article
by Baldassari, Sara and Picard, Fabienne and Verbeek, Nienke E and van Kempen, Marjan and Brilstra, Eva H and Lesca, Gaetan and Conti, Valerio and Guerrini, Renzo and Bisulli, Francesca and Licchetta, Laura and Pippucci, Tommaso and Tinuper, Paolo and Hirsch, Edouard and de Saint Martin, Anne and Chelly, Jamel and Rudolf, Gabrielle and Chipaux, Mathilde and Ferrand-Sorbets, Sarah and Dorfmüller, Georg and Sisodiya, Sanjay and Balestrini, Simona and Schoeler, Natasha and Hernandez-Hernandez, Laura and Krithika, S and Oegema, Renske and Hagebeuk, Eveline and Gunning, Boudewijn and Deckers, Charles and Berghuis, Bianca and Wegner, Ilse and Niks, Erik H and Jansen, Floor E and Braun, Kees and de Jong, Daniëlle and Rubboli, Guido and Talvik, Inga and Sander, Valentin and Uldall, Peter and Jacquemont, Marie-Line and Nava, Caroline and Leguern, Eric and Julia, Sophie and Gambardella, Antonio and d'Orsi, Giuseppe and Crichiutti, Giovanni and Faivre, Laurence and Darmency, Veronique and Benova, Barbora and Krsek, Pavel and Biraben, Arnaud and Lebre, Anne-Sophie and Jennesson, Mélanie and Sattar, Shifteh and Marchal, Cécile and NordliJr, Douglas R and Lindstrom, Kristin and Striano, Pasquale and Lomax, Lysa Boissé and Kiss, Courtney and Bartolomei, Fabrice and Lepine, Anne Fabienne and Schoonjans, An-Sofie and Stouffs, Katrien and Jansen, Anna and Panagiotakaki, Eleni and Ricard-Mousnier, Brigitte and Thevenon, Julien and de Bellescize, Julitta and Catenoix, Hélène and Dorn, Thomas and Zenker, Martin and Müller-Schlüter, Karen and Brandt, Christian and Krey, Ilona and Polster, Tilman and Wolff, Markus and Balci, Meral and Rostasy, Kevin and Achaz, Guillaume and Zacher, Pia and Becher, Thomas and Cloppenborg, Thomas and Yuskaitis, Christopher J and Weckhuysen, Sarah and Poduri, Annapurna and Lemke, Johannes R and Møller, Rikke S and Baulac, Stéphanie
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 08/2019, Volume 21, Issue 8, pp. 1896 - 1896
The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been... 
Life Sciences | Genetics | Human genetics
Journal Article
by Baldassari, Sara and Picard, Fabienne and Verbeek, Nienke E and van Kempen, Marjan and Brilstra, Eva H and Lesca, Gaetan and Conti, Valerio and Guerrini, Renzo and Bisulli, Francesca and Licchetta, Laura and Pippucci, Tommaso and Tinuper, Paolo and Hirsch, Edouard and Martin, Anne de Saint and Chelly, Jamel and Rudolf, Gabrielle and Chipaux, Mathilde and Ferrand-Sorbets, Sarah and Dorfmüller, Georg and Sisodiya, Sanjay and Balestrini, Simona and Schoeler, Natasha and Hernandez-Hernandez, Laura and Krithika, S and Oegema, Renske and Hagebeuk, Eveline and Gunning, Boudewijn and Deckers, Charles and Berghuis, Bianca and Wegner, Ilse and Niks, Erik and Jansen, Floor and Braun, Kees and Jong, Daniëlle de and Rubboli, Guido and Talvik, Inga and Sander, Valentin and Uldall, Peter and Jacquemont, Marie-Line and Nava, Caroline and Leguern, Eric and Julia, Sophie and Gambardella, Antonio and d'Orsi, Giuseppe and Crichiutti, Giovanni and Faivre, Laurence and Darmency, Veronique and Benova, Barbora and Krsek, Pavel and Biraben, Arnaud and Lebre, Anne-Sophie and Jennesson, Mélanie and Sattar, Shifteh and Marchal, Cécile and NordliJr, Douglas R and Lindstrom, Kristin and Striano, Pasquale and Lomax, Lysa Boissé and Kiss, Courtney and Bartolomei, Fabrice and Lepine, Anne Fabienne and Schoonjans, An-Sofie and Stouffs, Katrien and Jansen, Anna and Panagiotakaki, Eleni and Ricard-Mousnier, Brigitte and Thevenon, Julien and Bellescize, Julitta de and Catenoix, Hélène and Dorn, Thomas and Zenker, Martin and Müller-Schlüter, Karen and Brandt, Christian and Krey, Ilona and Polster, Tilman and Wolff, Markus and Balci, Meral and Rostasy, Kevin and Achaz, Guillaume and Zacher, Pia and Becher, Thomas and Cloppenborg, Thomas and Yuskaitis, Christopher J and Weckhuysen, Sarah and Poduri, Annapurna and Lemke, Johannes R and Møller, Rikke S and Baulac, Stéphanie
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 07/2019, Volume 21, Issue 7, pp. 1671 - 1671
The original version of this Article contained an error in the author list where the corresponding author Stéphanie Baulac was repeated twice. This has now... 
Journal Article
Epilepsia, ISSN 0013-9580, 07/2017, Volume 58, Issue 7, pp. 1227 - 1233
Journal Article
by May, Patrick and Girard, Simon and Harrer, Merle and Bobbili, Dheeraj R and Schubert, Julian and Wolking, Stefan and Becker, Felicitas and Lachance-Touchette, Pamela and Meloche, Caroline and Gravel, Micheline and Niturad, Cristina E and Knaus, Julia and De Kovel, Carolien and Toliat, Mohamad and Polvi, Anne and Iacomino, Michele and Guerrero-López, Rosa and Baulac, Stéphanie and Marini, Carla and Thiele, Holger and Altmüller, Janine and Jabbari, Kamel and Ruppert, Ann-Kathrin and Jurkowski, Wiktor and Lal, Dennis and Rusconi, Raffaella and Cestèle, Sandrine and Terragni, Benedetta and Coombs, Ian D and Reid, Christopher A and Striano, Pasquale and Caglayan, Hande and Siren, Auli and Everett, Kate and Møller, Rikke S and Hjalgrim, Helle and Muhle, Hiltrud and Helbig, Ingo and Kunz, Wolfram S and Weber, Yvonne G and Weckhuysen, Sarah and Jonghe, Peter De and Sisodiya, Sanjay M and Nabbout, Rima and Franceschetti, Silvana and Coppola, Antonietta and Vari, Maria S and Kasteleijn-Nolst Trenité, Dorothée and Baykan, Betul and Ozbek, Ugur and Bebek, Nerses and Klein, Karl M and Rosenow, Felix and Nguyen, Dang K and Dubeau, François and Carmant, Lionel and Lortie, Anne and Desbiens, Richard and Clément, Jean-François and Cieuta-Walti, Cécile and Sills, Graeme J and Auce, Pauls and Francis, Ben and Johnson, Michael R and Marson, Anthony G and Berghuis, Bianca and Sander, Josemir W and Avbersek, Andreja and McCormack, Mark and Cavalleri, Gianpiero L and Delanty, Norman and Depondt, Chantal and Krenn, Martin and Zimprich, Fritz and Peter, Sarah and Nikanorova, Marina and Kraaij, Robert and van Rooij, Jeroen and Balling, Rudi and Ikram, M Arfan and Uitterlinden, André G and Avanzini, Giuliano and Schorge, Stephanie and Petrou, Steven and Mantegazza, Massimo and Sander, Thomas and LeGuern, Eric and Serratosa, Jose M and Koeleman, Bobby P C and Palotie, Aarno and Lehesjoki, Anna-Elina and Nothnagel, Michael and Nürnberg, Peter and Maljevic, Snezana and Zara, Federico and Cossette, Patrick and Krause, Roland and Lerche, Holger and De Jonghe, Peter and Arfan Ikram, M and ... and Epicure Consortium and EpiPGX Consortium and EuroEPINOMICS COGIE Consortium and EuroEPINOMICS CoGIE Consortium
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 699 - 708
Journal Article