| PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia LA Jansen, GM Mirzaa, GE Ishak, BJ O'Roak, JB Hiatt, WH Roden, ... Brain 138 (6), 1613-1628, 2015 | 379 | 2015 |
| Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism GM Mirzaa, CD Campbell, N Solovieff, CP Goold, LA Jansen, S Menon, ... JAMA neurology 73 (7), 836-845, 2016 | 275 | 2016 |
| Response to treatment in a prospective national infantile spasms cohort. KG Knupp Ann Neurol 79 (3), 475-484, 2016 | 214 | 2016 |
| Impaired glial glutamate transport in a mouse tuberous sclerosis epilepsy model M Wong, KC Ess, EJ Uhlmann, LA Jansen, W Li, PB Crino, S Mennerick, ... Annals of neurology 54 (2), 251-256, 2003 | 195 | 2003 |
| How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium. EC Wirrell Epilepsia 56 (4), 617-625, 2015 | 167 | 2015 |
| Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex LH Zeng, Y Ouyang, V Gazit, JR Cirrito, LA Jansen, KC Ess, KA Yamada, ... Neurobiology of disease 28 (2), 184-196, 2007 | 140 | 2007 |
| Epileptogenesis and Reduced Inward Rectifier Potassium Current in Tuberous Sclerosis Complex‐1–Deficient Astrocytes LA Jansen, EJ Uhlmann, PB Crino, DH Gutmann, M Wong Epilepsia 46 (12), 1871-1880, 2005 | 129 | 2005 |
| Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly AR Paciorkowski, SS McDaniel, LA Jansen, H Tully, E Tuttle, ... Epilepsia 56 (3), 422-430, 2015 | 126 | 2015 |
| Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome CS Cheah, RE Westenbroek, WH Roden, F Kalume, JC Oakley, ... Channels 7 (6), 468-472, 2013 | 81 | 2013 |
| De novo mutations in SIK1 cause a spectrum of developmental epilepsies J Hansen, C Snow, E Tuttle, DH Ghoneim, CS Yang, A Spencer, ... The American Journal of Human Genetics 96 (4), 682-690, 2015 | 69 | 2015 |
| Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort. KG Knupp Epilepsia 57 (11), 1834-1842, 2016 | 66 | 2016 |
| Impaired maturation of cortical GABAA receptor expression in pediatric epilepsy LA Jansen, LD Peugh, WH Roden, JG Ojemann Epilepsia 51 (8), 1456-1467, 2010 | 66 | 2010 |
| Review of commercially available epilepsy genetic panels C Chambers, LA Jansen, R Dhamija Journal of genetic counseling 25 (2), 213-217, 2016 | 64 | 2016 |
| Glial localization of antiquitin: implications for pyridoxine‐dependent epilepsy LA Jansen, RF Hevner, WH Roden, SH Hahn, S Jung, SM Gospe Jr Annals of neurology 75 (1), 22-32, 2014 | 59 | 2014 |
| The epilepsy genetics initiative: systematic reanalysis of diagnostic exomes increases yield Epilepsy Genetics Initiative, SF Berkovic, DB Goldstein, EL Heinzen, ... Epilepsia 60 (5), 797-806, 2019 | 54 | 2019 |
| Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy UFH Engelke, RE Van Outersterp, J Merx, FAMG Van Geenen, ... The Journal of clinical investigation 131 (15), 2021 | 50 | 2021 |
| Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain A Donsante, P Johnson, LA Jansen, SG Kaler American journal of medical genetics Part A 152 (10), 2529-2534, 2010 | 47 | 2010 |
| Altered GABAA receptor subunit expression and pharmacology in human Angelman syndrome cortex WH Roden, LD Peugh, LA Jansen Neuroscience letters 483 (3), 167-172, 2010 | 38 | 2010 |
| Neuropeptide Y inhibition of calcium channels in PC-12 pheochromocytoma cells. LA McCullough Am J Physiol-Cell Ph 274, C1290-C1297, 1998 | 37 | 1998 |
| Mechanism of catecholamine synthesis inhibition by neuropeptide Y: role of Ca2+ channels and protein kinases LA McCullough J Neurochem 67, 1090-1099, 1996 | 36 | 1996 |
