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JAMA Pediatrics, ISSN 2168-6203, 08/2018, Volume 172, Issue 8, p. 779
This study compares the potential diagnostic yield of commercially available epilepsy panels to detect the genetic findings identified in a recently published... 
Panels | Cohort analysis | Next-generation sequencing | Epilepsy | Genetics | Diagnostic systems | Genetic testing
Journal Article
by Allen, Andrew S and Berkovic, Samuel F and Cossette, Patrick and Delanty, Norman and Dlugos, Dennis and Eichler, Evan E and Epstein, Michael P and Glauser, Tracy and Goldstein, David B and Han, Yujun and Heinzen, Erin L and Hitomi, Yuki and Howell, Katherine B and Johnson, Michael R and Kuzniecky, Ruben and Lowenstein, Daniel H and Lu, Yi-Fan and Madou, Maura R. Z and Marson, Anthony G and Mefford, Heather C and Esmaeeli Nieh, Sahar and O'Brien, Terence J and Ottman, Ruth and Petrovski, Slavé and Poduri, Annapurna and Ruzzo, Elizabeth K and Scheffer, Ingrid E and Sherr, Elliott H and Yuskaitis, Christopher J and Abou-Khalil, Bassel and Alldredge, Brian K and Bautista, Jocelyn F and Boro, Alex and Cascino, Gregory D and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glynn, Simon and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Paolicchi, Juliann M and Parent, Jack M and Park, Kristen and Shellhaas, Renée A and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joseph and Lin Thio, Liu and Venkat, Anu and Vining, Eileen P. G and Von Allmen, Gretchen K and Weisenberg, Judith L and Widdess-Walsh, Peter and Winawer, Melodie R and Epi4K Consortium and Epilepsy Phenome/Genome Project
Nature, ISSN 0028-0836, 2013, Volume 501, Issue 7466, pp. 217 - 221
Journal Article
Journal Article
Journal Article
JAMA Pediatrics, ISSN 2168-6203, 08/2018, Volume 172, Issue 8, pp. 779 - 780
This study compares the potential diagnostic yield of commercially available epilepsy panels to detect the genetic findings identified in a recently published... 
PEDIATRICS | Online First | Research | Letters | Research Letter
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
Human Molecular Genetics, ISSN 0964-6906, 09/2019, Volume 28, Issue 17, pp. 2952 - 2964
Abstract DEPDC5 is now recognized as one of the genes most often implicated in familial/inherited focal epilepsy and brain malformations. Individuals with... 
FAMILIAL FOCAL EPILEPSY | MAMMALIAN TARGET | RAPAMYCIN | SURVIVAL | CORTICAL DYSPLASIA | COMPLEX | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | TUBEROUS SCLEROSIS | NEURAL PROGENITOR CELLS | MUTATIONS
Journal Article
Journal Article
Neuropharmacology, ISSN 0028-3908, 2009, Volume 56, Issue 2, pp. 463 - 472
Significant advances have been made in understanding the underlying defects of and developing potential treatments for Fragile X syndrome (FXS), the most... 
Lithium | Behavior | GSK3 | Fragile X | mGluR | Audiogenic seizures | BIPOLAR DISORDER | SYNAPTIC PLASTICITY | NEUROSCIENCES | RECEPTOR ANTAGONIST | MESSENGER-RNA | LONG-TERM DEPRESSION | MOUSE MODEL | PHARMACOLOGY & PHARMACY | MOOD STABILIZERS | MENTAL-RETARDATION PROTEIN | TRANSGENIC MICE | Maleimides - administration & dosage | Seizures - genetics | Brain - anatomy & histology | Seizures - drug therapy | Male | Thiazoles - administration & dosage | Indoles - administration & dosage | Brain - metabolism | Dose-Response Relationship, Drug | Enzyme Inhibitors - administration & dosage | Urea - analogs & derivatives | Acoustic Stimulation - adverse effects | Exploratory Behavior - drug effects | Disease Models, Animal | Urea - administration & dosage | Drug Administration Routes | Gene Expression Regulation - genetics | Lithium Chloride - administration & dosage | Excitatory Amino Acid Antagonists - pharmacology | Antimanic Agents - administration & dosage | Glycogen Synthase Kinase 3 - metabolism | Serine - metabolism | Mice, Knockout | Brain - drug effects | Gene Expression Regulation - drug effects | Animals | Analysis of Variance | Seizures - etiology | Fragile X Mental Retardation Protein - genetics | Mice | Pyridines - pharmacology | Citrates - adverse effects | Glucose metabolism | Enzymes | Synthesis | Glycogen | Analysis | Glutamate | Mental illness | Index Medicus
Journal Article