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Lancet, The, ISSN 0140-6736, 2012, Volume 380, Issue 9854, pp. 1674 - 1682
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2018, Volume 20, Issue 1, pp. 98 - 108
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 511 - 522
ObjectiveWe aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype–phenotype correlations.MethodsWe... 
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
The American Journal of Human Genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 584 - 589
Journal Article
by Hengel, Holger and Bosso-Lefèvre, C. lia and Grady, George and Szenker-Ravi, Emmanuelle and Li, Hankun and Pierce, Sarah and Lebigot, Élise and Tan, Thong-Teck and Eio, Michelle Y and Narayanan, Gunaseelan and Utami, Kagistia Hana and Yau, Monica and Handal, Nader and Deigendesch, Werner and Keimer, Reinhard and Marzouqa, Hiyam M and Gunay-Aygun, Meral and Muriello, Michael J and Verhelst, Helene and Weckhuysen, Sarah and Mahida, Sonal and Naidu, Sakkubai and Thomas, Terrence G and Lim, Jiin Ying and Tan, Ee Shien and Haye, Damien and Willemsen, Michèl A. A. P and Oegema, Renske and Mitchell, Wendy G and Pierson, Tyler Mark and Anews, Marisa V and Willing, Marcia C and Rodan, Lance H and Barakat, Tahsin Stefan and van Slegtenhorst, Marjon and Gavrilova, Ralitza H and Martinelli, Diego and Gilboa, Tal and Tamim, Abdullah M and Hashem, Mais O and AlSayed, Moeenaldeen D and Abdulrahim, Maha M and Al-Owain, Mohammed and Awaji, Ali and Mahmoud, Adel A. H and Faqeih, Eissa A and Asmari, Ali Al and Algain, Sulwan M and Jad, Lamyaa A and Aldhalaan, Hesham M and Helbig, Ingo and Koolen, David A and Riess, Angelika and Kraegeloh-Mann, Ingeborg and Bauer, Peter and Gulsuner, Suleyman and Stamberger, Hannah and Ng, Alvin Yu Jin and Tang, Sha and Tohari, Sumanty and Keren, Boris and Schultz-Rogers, Laura E and Klee, Eric W and Barresi, Sabina and Tartaglia, Marco and Mor-Shaked, Hagar and Maddirevula, Sateesh and Begtrup, Amber and Telegrafi, Aida and Pfundt, Rolph and Schüle, Rebecca and Ciruna, Brian and Bonnard, Carine and Pouladi, Mahmoud A and Stewart, James C and Claridge-Chang, Adam and Lefeber, Dirk J and Alkuraya, Fowzan S and Mathuru, Ajay S and Venkatesh, Byrappa and Barycki, Joseph J and Simpson, Melanie A and Jamuar, Saumya S and Schöls, Ludger and Reversade, Bruno
Nature communications, ISSN 2041-1723, 2020, Volume 11, Issue 1, pp. 595 - 16
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an... 
Dehydrogenases | Oligomerization | Proteoglycans | Stability | Oxidoreductase | Epilepsy | Zebrafish | Glucose | Dehydrogenase | Delay | UDP-glucose 6-dehydrogenase | Glucose dehydrogenase | Hypotonia | Organoids | Enzymatic activity | Glycolipids | Encephalopathy | Fibroblasts | Neural stem cells | Extracellular matrix | Mutation | Seizures
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 59, Issue 1, pp. 1 - 4
Journal Article
Human Mutation, ISSN 1059-7794, 01/2013, Volume 34, Issue 1, pp. 237 - 247
Journal Article
by Van Dijck, Anke and Vulto-van Silfhout, Anneke T and Cappuyns, Elisa and van der Werf, Ilse M and Mancini, Grazia M and Tzschach, Andreas and Bernier, Raphael and Gozes, Illana and Eichler, Evan E and Romano, Corrado and Lindstrand, Anna and Nordgren, Ann and Bakshi, Madhura and Wilson, Meredith and Berman, Yemina and Dickson, Rebecca and Fransen, Erik and Helsmoortel, Céline and Van den Ende, Jenneke and Van der Aa, Nathalie and van de Wijdeven, Marina J and Rosenblum, Jessica and Monteiro, Fabíola and Kok, Fernando and Quercia, Nada and Bowdin, Sarah and Dyment, David and Chitayat, David and Alkhunaizi, Ebba and Boonen, Susanne E and Keren, Boris and Jacquette, Aurelia and Faivre, Laurence and Bezieau, Stephane and Isidor, Bertrand and Rieß, Angelika and Moog, Ute and Lynch, Sally Ann and McVeigh, Terri and Elpeleg, Orly and Smeland, Marie Falkenberg and Fannemel, Madeleine and van Haeringen, Arie and Maas, Saskia M and Veenstra-Knol, H.E and Schouten, Meyke and Willemsen, Marjolein H and Marcelis, Carlo L and Ockeloen, Charlotte and van der Burgt, Ineke and Feenstra, Ilse and van der Smagt, Jasper and Jezela-Stanek, Aleksandra and Krajewska-Walasek, Malgorzata and González-Lamuño, Domingo and Anderlid, Britt-Marie and Malmgren, Helena and Nordenskjöld, Magnus and Clement, Emma and Hurst, Jane and Metcalfe, Kay and Mansour, Sahar and Lachlan, Katherine and Clayton-Smith, Jill and Hendon, Laura G and Abdulrahman, Omar A and Morrow, Eric and McMillan, Clare and Gerdts, Jennifer and Peeden, Joseph and Schrier Vergano, Samantha A and Valentino, Caitlin and Chung, Wendy K and Ozmore, Jillian R and Bedrosian-Sermone, Sandra and Dennis, Anna and Treat, Kayla and Hughes, Susan Starling and Safina, Nicole and Le Pichon, Jean-Baptiste and McGuire, Marianne and Infante, Elena and Madan-Khetarpal, Suneeta and Desai, Sonal and Benke, Paul and Krokosky, Alyson and Cristian, Ingrid and Baker, Laura and Gripp, Karen and Stessman, Holly A and Eichenberger, Jacob and Jayakar, Parul and Pizzino, Amy and Manning, Melanie Ann and Slattery, Leah and Kvarnung, Malin and Kleefstra, Tjitske and de Vries, Bert B.A and Küry, Sébastien and Rosenfeld, Jill A and ... and Consortium and ADNP Consortium
Biological Psychiatry, ISSN 0006-3223, 02/2019, Volume 85, Issue 4, pp. 287 - 297
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 04/2019, Volume 6, Issue 4, pp. 655 - 668
ObjectiveFOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study... 
Datasets | Genotype & phenotype | Pediatrics | Medical imaging | Genes | Mutation | Patients
Journal Article