Details

Role Team Leader / Senior Research Officer

Research area Clinical Sciences

Group Neuroscience

Top Publications

Lee, WS, Macdonald-Laurs, E, Stephenson, S, D'Arcy, C, Maixner, W, Harvey, AS, Lockhart, PJ, Leventer, RJ. Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2. Neurology 101(2) : 78 -82 2023
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Lee, WS, Macdonald‐Laurs, E, Stephenson, SEM, D'Arcy, C, MacGregor, D, Leventer, RJ, Maixner, W, Harvey, AS, Lockhart, PJ. Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia. Epilepsia Open 8(1) : 205 -210 2023
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Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, et al. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. American Journal of Human Genetics 109(4) : 601 -617 2022
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Stephenson, SEM, Maixner, WJ, Barton, SM, D'Arcy, C, Mandelstam, SA, MacGregor, D, Lockhart, PJ, Leventer, RJ, Harvey, AS. Resection of tuber centers only for seizure control in tuberous sclerosis complex. Epilepsy Research 171: 106572 2021
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Lee, WS, Baldassari, S, Chipaux, M, Adle‐Biassette, H, Stephenson, SEM, Maixner, W, Harvey, AS, Lockhart, PJ, Baulac, S, Leventer, RJ. Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia. Annals of Clinical and Translational Neurology 8(2) : 485 -490 2021
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