Simone Mandelstam

Neurocognitive Dysfunction and Smaller Brain Volumes in Adolescents and Adults With a Fontan Circulation

Charlotte E Verrall, Joseph YM Yang, Jian Chen, Adrian Schembri, Yves d'Udekem, Diana Zannino, Nadine A Kasparian, Karin du Plessis, Stuart M Grieve, Thomas Welton, Belinda Barton, Thomas L Gentles, David S Celermajer, Chantal Attard, Kathryn Rice, Julian Ayer, Simone Mandelstam, David S Winlaw, Mark T Mackay, Rachael Cordina

Journal article  |  2021  |  CIRCULATION

BACKGROUND: Neurocognitive outcomes beyond childhood in people with a Fontan circulation are not well defined. This study aimed to..

The severe epilepsy syndromes of infancy: A population-based study

Katherine B Howell, Jeremy L Freeman, Mark T Mackay, Michael C Fahey, John Archer, Samuel F Berkovic, Eunice Chan, Gabriel Dabscheck, Stefanie Eggers, Michael Hayman, James Holberton, Rodney W Hunt, Susan E Jacobs, Andrew J Kornberg, Richard J Leventer, Simone Mandelstam, Jacinta M McMahon, Heather C Mefford, Julie Panetta, Jessica Riseley, et al.

Journal article  |  2021  |  EPILEPSIA

OBJECTIVE: To study the epilepsy syndromes among the severe epilepsies of infancy and assess their incidence, etiologies, and outc..

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine B Hammer, Elena Gardella, Danique RM Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris de Lange, Jing Zhang, Candace T Myers, Christina Fenger, Zaid Afawi, Edith P Almanza Fuerte, Danielle M Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F Bennett, Samuel F Berkovic, Bertrand Isidor, Arjan Bouman, Eva Brilstra, et al.

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), a..

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

AIM: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in childr..

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

Speech disorders are highly prevalent in the preschool years, but frequently resolve. The neurobiological basis of the most persis..