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Laura Jansen
Laura Jansen
Associate Professor of Neurology, University of Virginia
Verified email at virginia.edu
Title
Cited by
Cited by
Year
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
3552015
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
2582016
Response to treatment in a prospective national infantile spasms cohort.
KG Knupp
Ann Neurol 79 (3), 475-484, 2016
1952016
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
1872003
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
1512015
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
1372007
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
1282005
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
1182015
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
712013
Impaired maturation of cortical GABAA receptor expression in pediatric epilepsy
LA Jansen, LD Peugh, WH Roden, JG Ojemann
Epilepsia 51 (8), 1456-1467, 2010
642010
Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort.
KG Knupp
Epilepsia 57 (11), 1834-1842, 2016
632016
Review of commercially available epilepsy genetic panels
C Chambers, LA Jansen, R Dhamija
Journal of genetic counseling 25 (2), 213-217, 2016
622016
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
622015
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
552014
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
462010
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
452019
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
412021
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
382010
Neuropeptide Y inhibition of calcium channels in PC-12 pheochromocytoma cells.
LA McCullough
Am J Physiol-Cell Ph 274, C1290-C1297, 1998
361998
Mechanism of catecholamine synthesis inhibition by neuropeptide Y: role of Ca2+ channels and protein kinases
LA McCullough
J Neurochem 67, 1090-1099, 1996
361996
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