Simone Mandelstam

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

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

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias

SA Manikkam, K Chetcuti, KB Howell, R Savarirayan, AM Fink, SA Mandelstam

Journal article  |  2018  |  American Journal of Neuroradiology

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy

Daniel T Pederick, Kay L Richards, Sandra G Piltz, Raman Kumar, Stefka Mincheva-Tasheva, Simone A Mandelstam, Russell C Dale, Ingrid E Scheffer, Jozef Gecz, Steven Petrou, James N Hughes, Paul Q Thomas

Journal article  |  2018  |  Neuron

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

Gemma L Carvill, Aijie Liu, Simone Mandelstam, Amy Schneider, Amy Lacroix, Matthew Zemel, Jacinta M McMahon, Luis Bello-Espinosa, Mark Mackay, Geoffrey Wallace, Michaela Waak, Jing Zhang, Xiaoling Yang, Stephen Malone, Yue-Hua Zhang, Heather C Mefford, Ingrid E Scheffer

Journal article  |  2018  |  Epilepsia

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer

Journal article  |  2018  |  American Journal of Medical Genetics Part A

Not all SCN1A epileptic encephalopathies are Dravet syndrome

Lynette G Sadleir, Emily I Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A Kurian, Simone Mandelstam, Elaine Wirrell, Katherine C Nickels, Hema R Murali, Gemma Carvill, Candace T Myers, Heather C Mefford, Ingrid E Scheffer

Journal article  |  2017  |  Neurology

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice LR Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, et al.

Journal article  |  2017  |  Brain

Myoclonus Epilepsy and Ataxia due to KCNC1 Mutation: Analysis of 20 Cases and K plus Channel Properties

Karen L Oliver, Silvana Franceschetti, Carol J Milligan, Mikko Muona, Simone A Mandelstam, Laura Canafoglia, Anna M Boguszewska-Chachulska, Amos D Korczyn, Francesca Bisulli, Carlo Di Bonaventura, Francesca Ragona, Roberto Michelucci, Bruria Ben-Zeev, Rachel Straussberg, Ferruccio Panzica, Joao Massano, Daniel Friedman, Arielle Crespel, Bernt A Engelsen, Frederick Andermann, et al.

Journal article  |  2017  |  Annals of Neurology

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley PL Marsh, Delphine Heron, Timothy J Edwards, Angelique Quartier, Charles Galea, Caroline Nava, Agnes Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, et al.

Journal article  |  2017  |  Nature Genetics

Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases

Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer

Journal article  |  2017  |  Pediatrics

Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography

Shawna Farquharson, J-Donald Tournier, Fernando Calamante, Simone Mandelstam, Rosemary Burgess, Michal E Schneider, Samuel F Berkovic, Ingrid E Scheffer, Graeme D Jackson, Alan Connelly

Journal article  |  2016  |  Radiology

Acute spinal cord syndrome secondary to venous congestion

Ian R Woodcock, Nadia Coscini, Simone Mandelstam, Victoria Rodriguez-Casero, Gabriel Dabscheck

Journal article  |  2016  |  Neurology

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

Thuong T Ha, Lynette G Sadleir, Simone A Mandelstam, Sarah J Paterson, Ingrid E Scheffer, Jozef Gecz, Mark A Corbett

Journal article  |  2016  |  American Journal of Medical Genetics Part A

Familial Cortical Dysplasia Caused by Mutation in the Mammalian Target of Rapamycin Regulator NPRL3

Joe C Sim, Thomas Scerri, Miriam Fanjul-Fernandez, Jessica R Riseley, Greta Gillies, Kate Pope, Hanna van Roozendaal, Julian I Heng, Simone A Mandelstam, George McGillivray, Duncan MacGregor, Lakshminarayanan Kannan, Wirginia Maixner, A Simon Harvey, David J Amor, Martin B Delatycki, Peter B Crino, Melanie Bahlo, Paul J Lockhart, Richard J Leventer

Journal article  |  2016  |  Annals of Neurology

SCN2A encephalopathy A major cause of epilepsy of infancy with migrating focal seizures

Katherine B Howell, Jacinta M McMahon, Gemma L Carvill, Dimira Tambunan, Mark T Mackay, Victoria Rodriguez-Casero, Richard Webster, Damian Clark, Jeremy L Freeman, Sophie Calvert, Heather E Olson, Simone Mandelstam, Annapurna Poduri, Heather C Mefford, A Simon Harvey, Ingrid E Scheffer

Journal article  |  2015  |  Neurology

Epileptic spasms are a feature of DEPDC5 mTORopathy

Gemma L Carvill, Douglas E Crompton, Brigid M Regan, Jacinta M McMahon, Julia Saykally, Matthew Zemel, Amy L Schneider, Leanne Dibbens, Katherine B Howell, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Saul A Mullen, Samuel F Berkovic, Joseph Sullivan, Ingrid E Scheffer, Heather C Mefford

Journal article  |  2015  |  Neurology Genetics

The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia

A Simon Harvey, Simone A Mandelstam, Wirginia J Maixner, Richard J Leventer, Mira Semmelroch, Duncan MacGregor, Renate M Kalnins, Yuliya Perchyonok, Gregory J Fitt, Sarah Barton, Michael J Kean, Gavin CA Fabinyi, Graeme D Jackson

Journal article  |  2015  |  Neurology

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Thomas Scerri, Jessica R Riseley, Greta Gillies, Kate Pope, Rosemary Burgess, Simone A Mandelstam, Leanne Dibbens, Chung W Chow, Wirginia Maixner, Anthony Simon Harvey, Graeme D Jackson, David J Amor, Martin B Delatycki, Peter B Crino, Samuel F Berkovic, Ingrid E Scheffer, Melanie Bahlo, Paul J Lockhart, Richard J Leventer

Journal article  |  2015  |  Annals of Clinical and Translational Neurology

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Rhys H Thomas, Lin Mei Zhang, Gemma L Carvill, John S Archer, Sinead B Heavin, Simone A Mandelstam, Dana Craiu, Samuel F Berkovic, Deepak S Gill, Heather C Mefford, Ingrid E Scheffer

Journal article  |  2015  |  Neurology

GRIN2A An aptly named gene for speech dysfunction

Samantha J Turner, Angela K Mayes, Andrea Verhoeven, Simone A Mandelstam, Angela T Morgan, Ingrid E Scheffer

Journal article  |  2015  |  Neurology

Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia

Heath R Pardoe, Simone A Mandelstam, Rebecca Kucharsky Hiess, Ruben I Kuzniecky, Graeme D Jackson

Journal article  |  2015  |  Epilepsy Research

Sonography of the Pediatric Gastrointestinal System

Bo Arys, Simone Mandelstam, Padma Rao, Sara Kernick, Surekha Kumbla

Journal article  |  2014  |  Ultrasound Quarterly

Mutations in Mammalian Target of Rapamycin Regulator DEPDC5 Cause Focal Epilepsy with Brain Malformations

Ingrid E Scheffer, Sarah E Heron, Brigid M Regan, Simone Mandelstam, Douglas E Crompton, Bree L Hodgson, Laura Licchetta, Federica Provini, Francesca Bisulli, Lata Vadlamudi, Jozef Gecz, Alan Connelly, Paolo Tinuper, Michael G Ricos, Samuel F Berkovic, Leanne M Dibbens

Journal article  |  2014  |  Annals of Neurology

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility

Richard J Leventer, Floor E Jansen, Simone A Mandelstam, Alice Ho, Ismail Mohamed, Harvey B Sarnat, Mitsuhiro Kato, Tatsuya Fukasawa, Hirotomo Saitsu, Naomichi Matsumoto, Masayuki Itoh, Renate M Kalnins, Chung W Chow, A Simon Harvey, Graeme D Jackson, Peter B Crino, Samuel F Berkovic, Ingrid E Scheffer

Journal article  |  2014  |  Epilepsia

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy

Goekce Orhan, Merle Bock, Dorien Schepers, Elena I Ilina, Stephanie Nadine Reichel, Heidi Loeffler, Nicole Jezutkovic, Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, Timm Danker, Elke Guenther, Ingrid E Scheffer, Peter De Jonghe, Holger Lerche, Snezana Maljevic

Journal article  |  2014  |  Annals of Neurology

Spectrum of imaging appearances in Australian children with central nervous system hemophagocytic lymphohistiocytosis

Michael Guandalini, Andrew Butler, Simone Mandelstam

Journal article  |  2014  |  Journal of Clinical Neuroscience

Extending the KCNQ2 encephalopathy spectrum Clinical and neuroimaging findings in 17 patients

Sarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, Rudy Van Coster, Helle Hjalgrim, Rikke S Moller, Sabine Gronborg, An-Sofie Schoonjans, Berten Ceulemans, Sinead B Heavin, Christin Eltze, Rita Horvath, Gianluca Casara, Tiziana Pisano, Lucio Giordano, Kevin Rostasy, Edda Haberlandt, Beate Albrecht, Andrea Bevot, Ira Benkel, et al.

Journal article  |  2013  |  Neurology

5q31.3 Microdeletion Syndrome: Clinical and Molecular Characterization of Two Further Cases

Natasha Brown, Trent Burgess, Robin Forbes, George McGillivray, Andrew Kornberg, Simone Mandelstam, Zornitza Stark

Journal article  |  2013  |  American Journal of Medical Genetics. Part A

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

Zaid Afawi, Simone Mandelstam, Amos D Korczyn, Sara Kivity, Simri Walid, Adel Shalata, Karen L Oliver, Mark Corbett, Jozef Gecz, Samuel F Berkovic, Graeme D Jackson

Journal article  |  2013  |  Epilepsy Research

Challenges of the Anatomy and Diffusion Tensor Tractography of the Meyer Loop

SA Mandelstam

Journal article  |  2012  |  American Journal of Neuroradiology

Retinal astrocytic hamartomas in tuberous sclerosis complex

M Rashid, SA Mandelstam

Journal article  |  2012  |  Journal of Pediatric Neurology

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, Dominique Audenaert, Tine Deconinck, Lieve RF Claes, Liesbet Deprez, Katrien Smets, Dimitrina Hristova, Iglika Yordanova, Albena Jordanova, Berten Ceulemans, An Jansen, Daniele Hasaerts, Filip Roelens, Lieven Lagae, Simone Yendle, Thorsten Stanley, Sarah E Heron, John C Mulley, et al.

Journal article  |  2012  |  Annals of Neurology

Gliomatosis cerebri in a patient with Oilier disease

Ruth A Mitchell, Joshua Mingsheng Ye, Simone Mandelstam, Patrick Lo

Journal article  |  2011  |  Journal of Clinical Neuroscience

Pediatric Ocular Sonography

Cicero Torres Silva, Cain Raymond Brockley, Alison Crum, Simone Alyson Mandelstam

Journal article  |  2011  |  Seminars in Ultrasound, CT and MRI

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

Richard J Leventer, Anna Jansen, Daniela T Pilz, Neil Stoodley, Carla Marini, Francois Dubeau, Jodie Malone, L Anne Mitchell, Simone Mandelstam, Ingrid E Scheffer, Samuel F Berkovic, Frederick Andermann, Eva Andermann, Renzo Guerrini, William B Dobyns

Journal article  |  2010  |  Brain

Medial temporal lobe dysgenesis in hypochondroplasia

P Kannu, IM Hayes, S Mandelstam, L Donnan, R Savarirayan

Journal article  |  2005  |  American Journal of Medical Genetics

Pulmonary capillary haemangiomatosis in a premature infant

CJTA Silva, J Massie, SA Mandelstam

Journal article  |  2005  |  Pediatric Radiology

Menkes disease: a rare cause of bilateral inguinal hernias.

SA Mandelstam, R Fisher

Journal article  |  2005  |  Australasian Radiology

This case of Menkes disease presented with the uncommon association of bilateral inguinal hernias at the age of 4 months. Further ..

Acute tinnitus and hearing loss as the initial symptom of multiple sclerosis in a child

MV Rodriguez-Casero, S Mandelstam, AJ Kornberg, RG Berkowitz

Journal article  |  2005  |  International Journal of Pediatric Otorhinolaryngology

Aortic duplication artefact in a 14-year-old girl

SA Mandelstam, C Brockley

Journal article  |  2004  |  Pediatric Radiology

MRI of optic disc edema in childhood idiopathic intracranial hypertension

S Mandelstam, A Moon

Journal article  |  2004  |  Pediatric Radiology

MRI and preoperative embolization of a nasal cavity haemangioma in a child.

Savvas Andronikou, Simone Mandelstam, Stephen Fasulakis

Journal article  |  2003  |  Australasian Radiology

Haemangiomas are common benign tumours of the head and neck region in children. The nasal cavity, however, is an extremely rare si..

Anterior temporal changes on MR images of children with hippocampal sclerosis: An effect of seizures on the immature brain?

LA Mitchell, AS Harvey, LT Coleman, SA Mandelstam, GD Jackson

Journal article  |  2003  |  American Journal of Neuroradiology

Complementary use of radiological skeletal survey and bone scintigraphy in detection of bony injuries in suspected child abuse

SA Mandelstam, D Cook, M Fitzgerald, MR Ditchfield

Journal article  |  2003  |  Archives of Disease in Childhood: Education and Practice Edition