Staff Directory

Dr Simone Mandelstam

Research Papers

Listed below are Dr Simone Mandelstam's most recent publications.

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TUBER CENTRE-ONLY RESECTIONS FOR SEIZURE CONTROL IN TUBEROUS SCLEROSIS

Journal

Epilepsia

Volume

58

Begin Page

S170

Date

1/12/N/A

Author(s)

AS Harvey, C Bailey, J Freeman, S Barton, S Mandelstam, R Leventer, D Macgregor, W Maixner
Not all SCN1A epileptic encephalopathies are Dravet syndrome

Journal

Neurology

Volume

89

Begin Page

1035

Date

5/9/N/A

Author(s)

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

Journal

Nature Genetics

Volume

49

Begin Page

511

Date

1/4/N/A

Author(s)

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, Simone A Mandelstam, George McGillivray, Alissandra McIlroy, Aurelie Meneret, Cyril Mignot, Laura R Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail A Robinson, Megan Spencer-Smith, Myriam Srour, Sarah EM Stephenson, Rick Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy Rouleau, Tania Attie-Bitach, Martin B Delatycki, Jean-Louis Mandel, David J Amor, Emmanuel Roze, Amelie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H Sherr, Richard J Leventer, Linda J Richards, Paul J Lockhart, Christel Depienne
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Journal

Brain

Volume

140

Begin Page

1595

Date

1/6/N/A

Author(s)

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, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombes, Ian J Holt, David R Thorburn, Antonella Spinazzola
Acute spinal cord syndrome secondary to venous congestion

Journal

Neurology

Volume

87

Begin Page

1302

Date

20/9/N/A

Author(s)

Ian R Woodcock, Nadia Coscini, Simone Mandelstam, Victoria Rodriguez-Casero, Gabriel Dabscheck
Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography

Journal

Radiology

Volume

281

Begin Page

896

Date

1/12/N/A

Author(s)

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
Epileptic spasms are a feature of DEPDC5 mTORopathy.

Journal

Neurol Genet

Volume

1

Begin Page

e17

Date

8/N/A

Author(s)

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
Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia

Journal

Epilepsy Research

Volume

109

Begin Page

40

Date

1/1/N/A

Author(s)

Heath R Pardoe, Simone A Mandelstam, Rebecca Kucharsky Hiess, Ruben I Kuzniecky, Graeme D Jackson
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

Journal

American Journal Of Medical Genetics Part A

Volume

170

Begin Page

1059

Date

1/4/N/A

Author(s)

Thuong T Ha, Lynette G Sadleir, Simone A Mandelstam, Sarah J Paterson, Ingrid E Scheffer, Jozef Gecz, Mark A Corbett
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Journal

Neurology

Volume

84

Begin Page

951

Date

3/3/N/A

Author(s)

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

Journal

Annals Of Neurology

Volume

79

Begin Page

132

Date

1/1/N/A

Author(s)

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

Journal

Neurology

Volume

85

Begin Page

958

Date

15/9/N/A

Author(s)

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

Journal

Neurology

Volume

84

Begin Page

2021

Date

19/5/N/A

Author(s)

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

Journal

Annals Of Clinical And Translational Neurology

Volume

2

Begin Page

575

Date

1/5/N/A

Author(s)

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
Menkes disease: A rare cause of bilateral inguinal hernias

Journal

Australasian Radiology

Volume

49

Begin Page

192

Date

1/4/N/A

Author(s)

SA Mandelstam, R Fisher
Retinal astrocytic hamartomas in tuberous sclerosis complex

Journal

Journal Of Pediatric Neurology

Volume

10

Begin Page

75

Date

10/5/N/A

Author(s)

M Rashid, SA Mandelstam
Sonography of the Pediatric Gastrointestinal System

Journal

Ultrasound Quarterly

Volume

30

Begin Page

101

Date

1/6/N/A

Author(s)

Bo Arys, Simone Mandelstam, Padma Rao, Sara Kernick, Surekha Kumbla
GRIN2A An aptly named gene for speech dysfunction

Journal

Neurology

Volume

84

Begin Page

586

Date

10/2/N/A

Author(s)

Samantha J Turner, Angela K Mayes, Andrea Verhoeven, Simone A Mandelstam, Angela T Morgan, Ingrid E Scheffer
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations

Journal

Annals Of Neurology

Volume

75

Begin Page

782

Date

1/1/N/A

Author(s)

IE Scheffer, SE Heron, BM Regan, S Mandelstam, DE Crompton, BL Hodgson, L Licchetta, F Provini, F Bisulli, L Vadlamudi, J Gecz, A Connelly, P Tinuper, MG Ricos, SF Berkovic, LM Dibbens
Spectrum of imaging appearances in Australian children with central nervous system hemophagocytic lymphohistiocytosis

Journal

Journal Of Clinical Neuroscience

Volume

Not Found

Begin Page

782

Date

N/A

Author(s)

M Guandalini, S Mandelstam, A Butler
Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility

Journal

Epilepsia

Volume

55

Begin Page

782

Date

1/1/N/A

Author(s)

RJ Leventer, FE Jansen, SA Mandelstam, A Ho, I Mohamed, HB Sarnat, M Kato, T Fukasawa, H Saitsu, N Matsumoto, M Itoh, RM Kalnins, CW Chow, AS Harvey, GD Jackson, PB Crino, SF Berkovic, IE Scheffer
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy

Journal

Annals Of Neurology

Volume

Not Found

Begin Page

782

Date

N/A

Author(s)

G Orhan, M Bock, D Schepers, EI Ilina, SN Reichel, H Löffler, N Jezutkovic, H Lerche, S Maljevic, S Weckhuysen, A Suls, P De Jonghe, S Mandelstam, IE Scheffer, T Danker, E Guenther
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

Journal

Neurology

Volume

81

Begin Page

1697

Date

5/11/N/A

Author(s)

S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, RS Møller, S Grønborg, AS Schoonjans, B Ceulemans, SB Heavin, C Eltze, R Horvath, G Casara, T Pisano, L Giordano, K Rostasy, E Haberlandt, B Albrecht, A Bevot, I Benkel, S Syrbe, B Sheidley, R Guerrini, A Poduri, JR Lemke, S Mandelstam, I Scheffer, M Angriman, P Striano, C Marini, A Suls, P De Jonghe
5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases

Journal

American Journal Of Medical Genetics, Part A

Volume

161

Begin Page

2604

Date

1/10/N/A

Author(s)

N Brown, T Burgess, R Forbes, G Mcgillivray, A Kornberg, S Mandelstam, Z Stark
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

Journal

Epilepsy Research

Volume

Not Found

Begin Page

2604

Date

N/A

Author(s)

Z Afawi, S Mandelstam, GD Jackson, AD Korczyn, S Kivity, S Walid, A Shalata, KL Oliver, SF Berkovic, M Corbett, J Gecz

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