Search Filters
Format Format
Subjects Subjects
Subjects Subjects
Sort by Item Count (A-Z)
Filter by Count
epilepsy (23) 23
index medicus (23) 23
humans (19) 19
genetics & heredity (17) 17
female (15) 15
male (14) 14
child (12) 12
mutation (11) 11
genetic aspects (10) 10
research (10) 10
phenotype (9) 9
seizures (9) 9
child, preschool (8) 8
intellectual disability (8) 8
de-novo mutations (7) 7
encephalopathy (7) 7
epilepsy - genetics (7) 7
genes (7) 7
genetics (7) 7
spasms, infantile - genetics (7) 7
adult (6) 6
clinical neurology (6) 6
intellectual disability - genetics (6) 6
mutations (6) 6
adolescent (5) 5
brain (5) 5
epileptic encephalopathy (5) 5
infant (5) 5
neurodevelopmental disorders (5) 5
electroencephalography (4) 4
gene (4) 4
genetic variation (4) 4
infantile spasms (4) 4
neurosciences (4) 4
pediatrics (4) 4
proteins (4) 4
abridged index medicus (3) 3
analysis (3) 3
animals (3) 3
autism (3) 3
care and treatment (3) 3
cohort studies (3) 3
diagnosis (3) 3
epilepsy - diagnosis (3) 3
exome (3) 3
expression (3) 3
genetic predisposition to disease (3) 3
genetic research (3) 3
genetic variation - genetics (3) 3
genomics (3) 3
human medicine (3) 3
ilae commission (3) 3
intellectual disabilities (3) 3
language (3) 3
life sciences (3) 3
mental-retardation (3) 3
middle aged (3) 3
neurodevelopmental disorders - genetics (3) 3
patients (3) 3
pedigree (3) 3
protein (3) 3
report (3) 3
young adult (3) 3
1184 genetics, developmental biology, physiology (2) 2
1506 (2) 2
[sdv]life sciences [q-bio] (2) 2
age (2) 2
astrocytes (2) 2
autism spectrum disorder (2) 2
brain diseases - genetics (2) 2
case report (2) 2
children (2) 2
comorbidity (2) 2
data processing (2) 2
disease (2) 2
disorder (2) 2
disorders (2) 2
dravet syndrome (2) 2
encephalopathies (2) 2
epilepsies, myoclonic - genetics (2) 2
epilepsy - physiopathology (2) 2
epilepsy and seizures (2) 2
exome - genetics (2) 2
exome sequencing (2) 2
features (2) 2
gene expression (2) 2
gene mutations (2) 2
genetic diversity (2) 2
genetic predisposition to disease - genetics (2) 2
genotype (2) 2
genotype & phenotype (2) 2
genotypes (2) 2
glycosylation (2) 2
haploinsufficiency (2) 2
health aspects (2) 2
heterozygote (2) 2
hypotonia (2) 2
intellectual disability - diagnosis (2) 2
intellectual disability - pathology (2) 2
isoforms (2) 2
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range

Pediatrie pro Praxi, ISSN 1213-0494, 2015, Volume 16, Issue 3, pp. 156 - 159
Journal Article
Journal Article
Brain, ISSN 0006-8950, 11/2018, Volume 141, Issue 11, pp. 3160 - 3178
HCN channels are activated by hyperpolarization, and help to control neuronal excitability. Marini et al. describe how de novo or inherited missense variants... 
epilepsy | clinical spectrum | ion channel | intellectual disability | HCN1 | Life Sciences
Journal Article
by Helbig, Ingo and Helbig, Katherine L and Lopez-Hernandez, Tania and Shor, Oded and Galer, Peter and Ganesan, Shiva and Pendziwiat, Manuela and Rademacher, Annika and Ellis, Colin A and Hümpfer, Nadja and Schwarz, Niklas and Seiffert, Simone and Peeden, Joseph and Shen, Joseph and Štěrbová, Katalin and Hammer, Trine Bjørg and Møller, Rikke S and Shinde, Deepali N and Tang, Sha and Smith, Lacey and Poduri, Annapurna and Krause, Roland and Benninger, Felix and Haucke, Volker and Weber, Yvonne G and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Guerrini, Renzo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby P.C and Komarek, Vladimir and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Muhle, Hiltrud and Pal, Deb K and Palotie, Aarno and Rosenow, Felix and Schubert-Bast, Susanne and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weckhuysen, Sarah and Zara, Federico and Avillach, Paul and Bartels, Anna and Biswas, Sawona and Bourgeois, Florence and Devkota, Batsal and Glauser, Tracy and Hallinan, Barbara and Heath, Allison and Hirschhorn, Joel and Kilbourn, Judson and Kong, Sek Won and Krantz, Ian and Lee, In-Hee and Mandl, Kenneth D and Marsh, Eric and Sund, Kristen and Taylor, Deanne and White, Peter and GRIN Consortium and EuroEPINOMICS-RES Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1060 - 1072
The developmental and epileptic encephalopathies (DEEs) are heterogeneous disorders with a strong genetic contribution, but the underlying genetic etiology... 
computational phenotypes | synaptic transmission | developmental and epileptic encephalopathy | neurodevelopmental disorders | clathrin-mediated endocytosis | Human Phenotype Ontology
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
Physical Review E - Statistical, Nonlinear, and Soft Matter Physics, ISSN 1539-3755, 04/2001, Volume 63, Issue 4, pp. 462111 - 462116
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2018, Volume 55, Issue 2, pp. 104 - 113
Journal Article
by Siekierska, Aleksandra and Stamberger, Hannah and Deconinck, Tine and Oprescu, Stephanie N and Partoens, Michèle and Zhang, Yifan and Sourbron, Jo and Adriaenssens, Elias and Mullen, Patrick and Wiencek, Patrick and Hardies, Katia and Lee, Jeong-Soo and Giong, Hoi-Khoanh and Distelmaier, Felix and Elpeleg, Orly and Helbig, Katherine L and Hersh, Joseph and Isikay, Sedat and Jordan, Elizabeth and Karaca, Ender and Kecskes, Angela and Lupski, James R and Kovacs-Nagy, Reka and May, Patrick and Narayanan, Vinodh and Pendziwiat, Manuela and Ramsey, Keri and Rangasamy, Sampathkumar and Shinde, Deepali N and Spiegel, Ronen and Timmerman, Vincent and von Spiczak, Sarah and Helbig, Ingo and Balak, Chris and Belnap, Newell and Claasen, Ana and Courtright, Amanda and de Both, Matt and Huentelman, Matthew J and Naymik, Marcus and Richholt, Ryan and Siniard, Ashley L and Szelinger, Szabolcs and Craig, David W and Schrauwen, Isabelle and Afawi, Zaid and Balling, Rudi and Baulac, Stéphanie and Barišić, Nina and Caglayan, Hande S and Craiu, Dana and Guerrero-López, Rosa and Guerrini, Renzo and Hjalgrim, Helle and Jähn, Johanna and Klein, Karl Martin and Leguern, Eric and Lemke, Johannes R and Lerche, Holger and Marini, Carla and Møller, Rikke S and Muhle, Hiltrud and Rosenow, Felix and Serratosa, Jose and Suls, Arvid and Stephani, Ulrich and Štěrbová, Katalin and Striano, Pasquale and Zara, Federico and Weckhuysen, Sarah and Francklyn, Christopher and Antonellis, Anthony and de Witte, Peter and De Jonghe, Peter and C4RCD Res Grp and AR Working Grp EuroEPINOMICS RES and AR working group of the EuroEPINOMICS RES Consortium and C4RCD Research Group
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 708 - 15
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs... 
MUTATIONS CAUSE | HYPOMYELINATION | BIOGENESIS | MECHANISM | ILAE COMMISSION | MULTIDISCIPLINARY SCIENCES | GENES | PHENOTYPE | ONSET | TRNA(VAL) | TRANSFER-RNA-SYNTHETASE | Yeast | tRNA | Epilepsy | Amino acids | Zebrafish | Microcephaly | Neurodevelopmental disorders | Proteins | Neurological diseases | Microencephaly | Encephalopathy | Complementation | Mutation | Age
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2015, Volume 47, Issue 4, pp. 393 - 399
Journal Article
by Feng, Yen-Chen Anne and Howrigan, Daniel P and Abbott, Liam E and Tashman, Katherine and Cerrato, Felecia and Singh, Tarjinder and Heyne, Henrike and Byrnes, Andrea and Churchhouse, Claire and Watts, Nick and Solomonson, Matthew and Lal, Dennis and Heinzen, Erin L and Dhindsa, Ryan S and Stanley, Kate E and Cavalleri, Gianpiero L and Hakonarson, Hakon and Helbig, Katherine L and Helbig, Ingo and Krause, Roland and May, Patrick and Weckhuysen, Sarah and Weckhuysen, Dorien and Petrovski, Slavé and Kamalakaran, Sitharthan and Sisodiya, Sanjay M and Cossette, Patrick and Cotsapas, Chris and De Jonghe, Peter and Dixon-Salazar, Tracy and Guerrini, Renzo and Kwan, Patrick and Marson, Anthony G and Stewart, Randy and Depondt, Chantal and Dlugos, Dennis J and Scheffer, Ingrid E and Striano, Pasquale and Freyer, Catharine and McKenna, Kevin and Regan, Brigid M and Bellows, Susannah T and Leu, Costin and Bennett, Caitlin A and Johns, Esther M.C and Macdonald, Alexandra and Shilling, Hannah and Burgess, Rosemary and Bahlo, Melanie and O’Brien, Terence J and Todaro, Marian and Stamberger, Hannah and Andrade, Danielle M and Sadoway, Tara R and Mo, Kelly and Krestel, Heinz and Gallati, Sabina and Papacostas, Savvas S and Kousiappa, Ioanna and Tanteles, George A and Štěrbová, Katalin and Vlčková, Markéta and Sedláčková, Lucie and Laššuthová, Petra and Klein, Karl Martin and Rosenow, Felix and Reif, Philipp S and Reif, Andreas and Knake, Susanne and Kunz, Wolfram S and Zsurka, Gábor and Elger, Christian E and Bauer, Jürgen and Rademacher, Michael and Rademacher, Annika and Pendziwiat, Manuela and Muhle, Hiltrud and van Baalen, Andreas and von Spiczak, Sarah and Stephani, Ulrich and Afawi, Zaid and Korczyn, Amos D and Kanaan, Moien and Canavati, Christina and Kurlemann, Gerhard and Müller-Schlüter, Karen and Kluger, Gerhard and Häusler, Martin and Blatt, Ilan and Lemke, Johannes R and Krey, Ilona and Weber, Yvonne G and Wolking, Stefan and Becker, Felicitas and Hengsbach, Christian and Rau, Sarah and Maisch, Ana F and Steinhoff, Bernhard J and Schulze-Bonhage, Andreas and Schubert-Bast, Susanne and ... and Epi25 Collaborative and Genomic Psychiat Cohort GPC Consor
The American Journal of Human Genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, pp. 267 - 282
Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe... 
epilepsy | seizures | exome | epileptic encephalopathy | burden analysis | sequencing | PROTEIN | METAANALYSIS | DE-NOVO MUTATIONS | VARIANTS | SUSCEPTIBILITY | GENETICS & HEREDITY | EPILEPTIC SEIZURES | GAMMA-2-SUBUNIT | GENOME | EPIDEMIOLOGY | COMMON EPILEPSIES | Psychological aspects | Genetic variation | Epilepsy | Physiological aspects | Genetic aspects | Research | Risk factors
Journal Article