Simone Mandelstam

Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study

F Arrigoni, D Peruzzo, S Mandelstam, G Amorosino, D Redaelli, R Romaniello, R Leventer, R Borgatti, M Seal, JY-M Yang

Journal article  |  2020  |  American Journal of Neuroradiology

BACKGROUND AND PURPOSE: Polymicrogyria and lissencephaly may be associated with abnormal organization of the undelying white matte..

Neuronal Ceroid Lipofuscinosis type 2: an Australian case series

Alexandra M Johnson, Simone Mandelstam, Ian Andrews, Katja Boysen, Joy Yaplito-Lee, Michael Fietz, Lakshmi Nagarajan, Victoria Rodriguez-Casero, Monique M Ryan, Nicholas Smith, Ingrid E Scheffer, Carolyn Ellaway

Journal article  |  2020  |  Journal of Paediatrics and Child Health

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

Renske Oegema, George McGillivray, Richard Leventer, Anne-Gaelle Le Moing, Nadia Bahi-Buisson, Angela Barnicoat, Simone Mandelstam, David Francis, Fiona Francis, Grazia MS Mancini, Sanne Savelberg, Gijs van Haaften, Kshitij Mankad, Maarten H Lequin

Journal article  |  2019  |  American Journal of Medical Genetics Part C: Seminars in Medical Genetics

EML1 encodes the protein Echinoderm microtubule-associated protein-like 1 or EMAP-1 that binds to the microtubule complex. Mutatio..

Recurrent somatic IDH1 mutation in an adult with Maffucci syndrome

NJ Brown, Z Ye, C Stutterd, A Schneider, S Mullen, S Mandelstam, IE Scheffer, MS Hildebrand

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones, et al.

Journal article  |  2019  |  Epilepsia Open

We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephal..

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..

Dorsal language stream anomalies in an inherited speech disorder

Frederique J Liegeois, Samantha J Turner, Angela Mayes, Alexandra F Bonthrone, Amber Boys, Libby Smith, Bronwyn Parry-Fielder, Simone Mandelstam, Megan Spencer-Smith, Melanie Bahlo, Tom S Scerri, Michael S Hildebrand, Ingrid E Scheffer, Alan Connelly, Angela T Morgan

Journal article  |  2019  |  Brain

Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke

Tanya L Medley, Christina Miteff, Ian Andrews, Tyson Ware, Michael Cheung, Paul Monagle, Simone Mandelstam, Alison Wray, Clair Pridmore, Christopher Troedson, Russell C Dale, Michael Fahey, Adriane Sinclair, Peter Walsh, Belinda Stojanovski, Mark T MacKay

Journal article  |  2019  |  International Journal of Stroke

Dominant mutations in DCC cause isolated agenesis of the corpus callosum with sex specific penetrance

APL Marsh, D Heron, TJ Edwards, A Quartier, A Rastetter, C Nava, S Heide, B Keren, C Mignot, C Garel, A Faudet, C Galea, G Mcgillivray, SA Mandelstam, S Odent, M Bahlo, J Mandel, A Piton, A Meneret, E Roze, et al.

Conference Proceedings  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford, Ingrid E Scheffer, A Simon Harvey

Journal article  |  2018  |  Epilepsia