| Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes JR Lemke, D Lal, EM Reinthaler, I Steiner, M Nothnagel, M Alber, ... Nature genetics 45 (9), 1067-1072, 2013 | 422 | 2013 |
| De novo variants in neurodevelopmental disorders with epilepsy HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ... Nature genetics 50 (7), 1048-1053, 2018 | 181 | 2018 |
| Progress in understanding and treating SCN2A-mediated disorders SJ Sanders, AJ Campbell, JR Cottrell, RS Moller, FF Wagner, ... Trends in neurosciences 41 (7), 442-456, 2018 | 165 | 2018 |
| Delineating the GRIN1 phenotypic spectrum: a distinct genetic NMDA receptor encephalopathy JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ... Neurology 86 (23), 2171-2178, 2016 | 142 | 2016 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 139 | 2019 |
| ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes M Yabas, CE Teh, S Frankenreiter, D Lal, CM Roots, B Whittle, ... Nature immunology 12 (5), 441-449, 2011 | 127 | 2011 |
| Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies Nature communications 9 (1), 5269, 2018 | 126 | 2018 |
| DEPDC5 mutations in genetic focal epilepsies of childhood D Lal, EM Reinthaler, J Schubert, H Muhle, E Riesch, G Kluger, K Jabbari, ... Annals of neurology 75 (5), 788-792, 2014 | 109 | 2014 |
| RBFOX1 and RBFOX3 mutations in rolandic epilepsy D Lal, EM Reinthaler, J Altmüller, MR Toliat, H Thiele, P Nürnberg, ... PloS one 8 (9), e73323, 2013 | 102 | 2013 |
| Cyclin-dependent kinase-like 5 deficiency disorder: clinical review HE Olson, ST Demarest, EM Pestana-Knight, LC Swanson, S Iqbal, D Lal, ... Pediatric neurology 97, 18-25, 2019 | 96 | 2019 |
| Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies D Lal, AK Ruppert, H Trucks, H Schulz, CG de Kovel, ... PLoS genetics 11 (5), e1005226, 2015 | 96 | 2015 |
| Idiopathic focal epilepsies: the “lost tribe” DK Pal, C Ferrie, L Addis, T Akiyama, G Capovilla, R Caraballo, ... Epileptic Disorders 18 (3), 252-288, 2016 | 74 | 2016 |
| Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia K Hardies, CGF De Kovel, S Weckhuysen, B Asselbergh, T Geuens, ... Brain 138 (11), 3238-3250, 2015 | 71 | 2015 |
| Common variant burden contributes to the familial aggregation of migraine in 1,589 families P Gormley, MI Kurki, ME Hiekkala, K Veerapen, P Häppölä, AA Mitchell, ... Neuron 98 (4), 743-753. e4, 2018 | 68 | 2018 |
| 16p11. 2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy EM Reinthaler, D Lal, S Lebon, MS Hildebrand, HHM Dahl, BM Regan, ... Human molecular genetics 23 (22), 6069-6080, 2014 | 66 | 2014 |
| CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development ST Demarest, HE Olson, A Moss, E Pestana‐Knight, X Zhang, S Parikh, ... Epilepsia 60 (8), 1733-1742, 2019 | 65 | 2019 |
| Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study P May, S Girard, M Harrer, DR Bobbili, J Schubert, S Wolking, F Becker, ... The Lancet Neurology 17 (8), 699-708, 2018 | 65 | 2018 |
| Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy D Lal, H Trucks, RS Møller, H Hjalgrim, BPC Koeleman, CGF de Kovel, ... Epilepsia 54 (2), 265-271, 2013 | 62 | 2013 |
| Polygenic burden in focal and generalized epilepsies C Leu, R Stevelink, AW Smith, SB Goleva, M Kanai, L Ferguson, ... Brain 142 (11), 3473-3481, 2019 | 59 | 2019 |
| Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy EM Reinthaler, D Lal, W Jurkowski, M Feucht, H Steinböck, ... Epilepsia 55 (8), e89-e93, 2014 | 57 | 2014 |
