Sarah Stephenson

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

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

Wei Shern Lee, Sarah EM Stephenson, Katherine B Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A Mandelstam, Samuel F Berkovic, Ingrid E Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J Lockhart, Richard J Leventer

Journal article  |  2019  |  Annals of Clinical and Translational Neurology

Focal cortical dysplasia (FCD) causes drug-resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. Ho..

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

Sarah EM Stephenson, Ruth Djaldetti, Haloom Rafehi, Gabrielle R Wilson, Greta Gillies, Melanie Bahlo, Paul J Lockhart

Journal article  |  2019  |  Parkinsonism & Related Disorders

BACKGROUND: Bi-allelic mutations in PARK7 are a rare cause of autosomal recessive early onset Parkinson's disease (EO-PD). To date..

Pathogenic Variants in GPC4 Cause Keipert Syndrome

David J Amor, Sarah EM Stephenson, Mirna Mustapha, Martin A Mensah, Charlotte W Ockeloen, Wei Shern Lee, Rick M Tankard, Dean G Phelan, Marwan Shinawi, Arjan PM de Brouwer, Rolph Pfundt, Cari Dowling, Tomi L Toler, V Reid Sutton, Emanuele Agolini, Martina Rinelli, Rossella Capolino, Diego Martinelli, Giuseppe Zampino, Miroslav Dumic, et al.

Journal article  |  2019  |  American Journal of Human Genetics

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line

Sarah EM Stephenson, Timothy D Aumann, Juliet M Taylor, Jessica R Riseley, Ruili Li, Jeffrey R Mann, Doris Tomas, Paul J Lockhart

Journal article  |  2018  |  Scientific Reports

The Emerging Role of Rab GTPases in the Pathogenesis of Parkinson's Disease

Yujing Gao, Gabrielle R Wilson, Sarah EM Stephenson, Kiymet Bozaoglu, Matthew J Farrer, Paul J Lockhart

Journal article  |  2018  |  Movement Disorders

DEVELOPING CELL AND GENE THERAPY TO TREAT FRIEDREICH ATAXIA

Sze Hwee Ong, Dong C Zhang, Chou H Sim, M Burton, Dean Phelan, Sarah EM Stephenson, Gabrielle R Wilson, Donald F Newgreen, Anthony J Hannan, Paul J Lockhart, Martin B Delatycki, Marguerite V Evans-Galea

Conference Proceedings  |  2018  |  JOURNAL OF GENE MEDICINE

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14

Chloe Stutterd, Peter Diakumis, Melanie Bahlo, Miriam Fanjul Fernandez, Richard J Leventer, Martin Delatycki, David Amor, Chung W Chow, Sarah Stephenson, Miriam H Meisler, Catriona Mclean, Paul J Lockhart

Journal article  |  2017  |  Annals of Clinical and Translational Neurology