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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)
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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)
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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)
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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)
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485 -490
2021
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