X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (77) 77
humans (67) 67
epilepsy (57) 57
female (49) 49
male (47) 47
clinical neurology (46) 46
mutation (40) 40
child (33) 33
child, preschool (30) 30
de-novo mutations (29) 29
genetics & heredity (29) 29
phenotype (29) 29
seizures (26) 26
genetics (25) 25
epilepsy - genetics (23) 23
genetic aspects (23) 23
infant (21) 21
adolescent (20) 20
adult (19) 19
neurosciences (19) 19
epileptic encephalopathy (18) 18
pedigree (18) 18
abridged index medicus (16) 16
genes (16) 16
human medicine (16) 16
life sciences (16) 16
cohort studies (15) 15
encephalopathy (15) 15
intellectual disability (15) 15
mutation - genetics (15) 15
middle aged (14) 14
young adult (14) 14
animals (13) 13
article (13) 13
mutations (13) 13
research (12) 12
electroencephalography (11) 11
gene mutations (11) 11
genetic research (11) 11
spectrum (11) 11
patients (10) 10
risk factors (10) 10
brain (9) 9
disorders (9) 9
epilepsy, generalized - genetics (9) 9
gene (9) 9
genetic predisposition to disease - genetics (9) 9
intellectual disability - genetics (9) 9
neurons and cognition (9) 9
spasms, infantile - genetics (9) 9
convulsions & seizures (8) 8
dravet syndrome (8) 8
generalized epilepsy (8) 8
genomes (8) 8
genomics (8) 8
neurology (8) 8
brain diseases - genetics (7) 7
dna mutational analysis (7) 7
expression (7) 7
family (7) 7
genetic predisposition to disease (7) 7
infant, newborn (7) 7
neurodevelopmental disorders (7) 7
neurodevelopmental disorders - genetics (7) 7
protein (7) 7
anticonvulsants - therapeutic use (6) 6
autism (6) 6
biochemistry & molecular biology (6) 6
biology (6) 6
epilepsy - physiopathology (6) 6
exome (6) 6
genotype (6) 6
infantile spasms (6) 6
kcnq2 potassium channel - genetics (6) 6
medical research (6) 6
munc18 proteins - genetics (6) 6
nerve tissue proteins - genetics (6) 6
original (6) 6
proteins (6) 6
repressor proteins - genetics (6) 6
seizures - genetics (6) 6
studies (6) 6
228 (5) 5
[ sdv.neu ] life sciences [q-bio]/neurons and cognition [q-bio.nc] (5) 5
amino acid sequence (5) 5
analysis (5) 5
antiepileptic drugs (5) 5
aphasia (5) 5
copy number variants (5) 5
disease (5) 5
epilepsies, myoclonic - genetics (5) 5
epilepsy - diagnosis (5) 5
health aspects (5) 5
human genetics (5) 5
idiopathic generalized epilepsy (5) 5
magnetic resonance imaging (5) 5
mutation, missense (5) 5
neurobiology (5) 5
pediatrics (5) 5
phenotypes (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1067 - 1072
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2018, Volume 49, Issue S 01, pp. S1 - S12
Conference Proceeding
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 967 - 975
Journal Article
by Appenzeller, Silke and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Dimova, Petia and Djémié, Tania and Gormley, Padhraig and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby and Komarek, Vladimir and Krause, Roland and Kuhlenbäumer, Gregor and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Pendziwiat, Manuela and Robbiano, Angela and Roelens, Filip and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin 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 Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Sadleir, Lynette and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and ... and Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project and Epilepsy Phenome/Genome Project
The American Journal of Human Genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Journal Article
Epilepsia, ISSN 0013-9580, 12/2015, Volume 56, Issue 12, pp. e203 - e208
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
Journal Article
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2015, Volume 89, pp. 180 - 189
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
Journal Article