Sarah Stephenson

Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia

Wei Shern Lee, Emma Macdonald-Laurs, Sarah EM Stephenson, Colleen D'Arcy, Duncan MacGregor, Richard J Leventer, Wirginia Maixner, A Simon Harvey, Paul J Lockhart

Journal article  |  2022  |  EPILEPSIA OPEN

Pathogenic somatic MTOR variants in the cerebral cortex are a frequent cause of focal cortical dysplasia (FCD). We describe a chil..

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Sarah EM Stephenson, Gregory Costain, Laura ER Blok, Michael A Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E Alhuzaimi, James J Dowling, Susan Walker, Kimberly Amburgey, Robin Z Hayeems, Lance H Rodan, Marc A Schwartz, Jonathan Picker, Sally A Lynch, Aditi Gupta, Kristen J Rasmussen, Lisa A Schimmenti, Eric W Klee, Zhiyv Niu, et al.

Journal article  |  2022  |  AMERICAN JOURNAL OF HUMAN GENETICS

Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function..

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis

Wei Shern Lee, Sara Baldassari, Sarah EM Stephenson, Paul J Lockhart, Stephanie Baulac, Richard J Leventer

Journal article  |  2022  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Type II focal cortical dysplasia (FCD) is a neuropathological entity characterised by cortical dyslamination with the presence of ..

Genetic landscape of infantile spasms with focal brain malformations

Matthew Coleman, Min Wang, Sarah Stephenson, Cas Simons, Wei Shern Lee, Colleen D'Arcy, Wirginia Maixner, Penny Snell, Kate Pope, Simon Harvey, Richard Leventer, Paul Lockhart, Katherine Howell

Conference Proceedings  |  2021  |  EPILEPSIA

Resection of tuber centers only for seizure control in tuberous sclerosis complex

Sarah EM Stephenson, Wirginia J Maixner, Sarah M Barton, Colleen D'Arcy, Simone A Mandelstam, Duncan MacGregor, Paul J Lockhart, Richard J Leventer, A Simon Harvey

Journal article  |  2021  |  EPILEPSY RESEARCH

Our previous studies suggest the tuber center is the seizure focus in tuberous sclerosis complex (TSC). We report findings from 5 ..

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle-Biassette, Sarah EM Stephenson, Wirginia Maixner, A Simon Harvey, Paul J Lockhart, Stephanie Baulac, Richard J Leventer

Journal article  |  2021  |  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three pati..

Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy

Wei Shern Lee, Sarah EM Stephenson, Kate Pope, Greta Gillies, Wirginia Maixner, Emma Macdonald-Laurs, Duncan MacGregor, Colleen D'Arcy, Graeme Jackson, A Simon Harvey, Richard J Leventer, Paul J Lockhart

Journal article  |  2020  |  NEUROLOGY

OBJECTIVE: To determine the genetic basis of bottom-of-sulcus dysplasia (BOSD), which is a highly focal and epileptogenic cortical..

Genetic Analysis ofRAB39Bin an Early-Onset Parkinson's Disease Cohort

Yujing Gao, Gabrielle R Wilson, Nicholas Salce, Alexandra Romano, George D Mellick, Sarah EM Stephenson, Paul J Lockhart

Journal article  |  2020  |  FRONTIERS IN NEUROLOGY

Pathogenic variants in the gene encoding RAB39B, resulting in the loss of protein function, lead to the development of X-linked ea..

Distribution of Parkinson's disease associated RAB39B in mouse brain tissue

Yujing Gao, Gabrielle R Wilson, Sarah EM Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A McLean, Paul Q Thomas, David Finkelstein, Paul Lockhart

Journal article  |  2020  |  MOLECULAR BRAIN

Pathogenic variants in the gene encoding the small GTPase Ras analogue in Brain 39b (RAB39B) are associated with early-onset parki..

Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue

Yujing Gao, Gabrielle R Wilson, Sarah EM Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A McLean, Paul Q Thomas, David I Finkelstein, Paul Lockhart

Journal article  |  2019

Abstract Pathogenic variants in the gene encoding the small GTPase Ras analogue in Brain 39b (RAB39B) are associated with ..