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Annals of Neurology, ISSN 0364-5134, 07/2018, Volume 84, Issue 1, pp. 161 - 161
Journal Article
Current Pediatrics Reports, ISSN 2167-4841, 3/2017, Volume 5, Issue 1, pp. 24 - 29
During the last 5 years, the number of genes identified as causes of childhood epilepsies has increased significantly. Within this review, the current state of... 
Exome | Pediatrics | Medicine & Public Health | Neurogenetics | Epilepsy | SCN2A | Gene panel | SCN1A
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 511 - 522
Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations. Methods... 
NMDA RECEPTOR | AUTISM | SEIZURES | DE-NOVO MUTATIONS | MENTAL-RETARDATION | SPEECH IMPAIRMENT | GENETICS & HEREDITY | SYNGAP1 CAUSE | GTPASE-ACTIVATING PROTEIN | SYNAPTIC PLASTICITY | HAPLOINSUFFICIENCY | Care and treatment | Epilepsy | Genetics | Nervous system | Degeneration | Research | Mental retardation | Patients | Health aspects | Life Sciences | Neurons and Cognition
Journal Article
Epilepsia, ISSN 0013-9580, 02/2015, Volume 56, Issue 2, pp. 195 - 196
Journal Article
Neurology, ISSN 0028-3878, 01/2018, Volume 90, Issue 5, pp. e442 - e443
Neuroimaging in a 6-year-old girl with an unknown neurodegenerative disorder showed atrophy and bilateral thalamic T2/fluid-attenuated inversion recovery... 
CLINICAL NEUROLOGY | Atrophy - diagnostic imaging | Magnetic Resonance Imaging | Spasms, Infantile - physiopathology | Thalamus - diagnostic imaging | Humans | Female | Atrophy - etiology | Spasms, Infantile - diagnostic imaging | Child | Disease Progression | Index Medicus | Abridged Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1067 - 1072
Journal Article
Neurology, ISSN 0028-3878, 07/2017, Volume 89, Issue 1, pp. 14 - 15
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2015, Volume 47, Issue 4, pp. 393 - 399
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 6, pp. 640 - 645
Journal Article
by Devinsky, Orrin and Rapaport, Mark H and Castellotti, Barbara and Kluger, Gerhard and McQuillin, Andrew and Rees, Mark I and Mountier, Emily and Zsurka, Gabor and Stipa, Carlotta and Bauer, Jurgen and Salpietro, Vincenzo and Krause, Roland and French, Jacqueline A and Guerrini, Renzo and Kousiappa, Ioanna and Palotie, Aarno and Cotsapas, Chris and Manna, Lorella and Cossette, Patrick and Tinuper, Paolo and Bennett, Caitlin A and Hakonarson, Hakon and Inoue, Yushi and Muhle, Hiltrud and Piras, Federica and Lander, Eric S and Stanley, Kate E and Blatt, Ilan and Freyer, Catharine and Bromet, Evelyn J and Byrnes, Andrea and Braatz, Vera and van Baalen, Andreas and Suzuki, Toshimitsu and Pato, Michele T and Kurlemann, Gerhard and Franceschetti, Silvana and Piras, Fabrizio and Hegde, Manu and Todaro, Marian and Dennig, Dieter and Knake, Susanne and Privitera, Michael and Madia, Francesca and Mo, Kelly and Iacomino, Michele and Tanteles, George A and Gabriel, Stacey B and Rosenow, Felix and Ugur-Iseri, Sibel and Chung, Seo-Kyung and Schneider, Natascha and Delanty, Norman and Churchhouse, Claire and Shilling, Hannah and Rademacher, Annika and Helbig, Katherine L and Buono, Russell J and Bisulli, Francesca and Arslan, Mutluay and Schreiber, Herbert and Yamakawa, Kazuhiro and Berkovic, Samuel F and Sterbova, Katalin and Lal, Dennis and King, Chontelle and Canavati, Christina and Lui, Colin H.T and Sadoway, Tara R and Wolking, Stefan and Sham, Pak C and Hausler, Martin and Andrade, Danielle M and Sills, Graeme J and Borggrafe, Ingo and Baykan, Betul and Leu, Costin and Dlugos, Dennis J and Krestel, Heinz and Krey, Ilona and Schulze-Bonhage, Andreas and Kesim, Yesim and Baum, Larry W and Stamberger, Hannah and Gallati, Sabina and Pato, Carlos N and Mancardi, Maria Margherita and Cherny, Stacey S and McCarroll, Steven A and Pendziwiat, Manuela and Marini, Carla and Granata, Tiziana and Gili, Tommaso and Madeleyn, Rene and Weckhuysen, Dorien and Hengsbach, Christian and Regan, Brigid M and Elger, Christian E and Lemke, Johannes R and Kuzniecky, Ruben I and ... and Epi25 Collaborative and Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au
American journal of human genetics, ISSN 0002-9297, 07/2019, Volume 105, Issue 2, p. 267
Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe... 
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2009, Volume 41, Issue 2, pp. 160 - 162