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1

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, Dominique Audenaert, Tine Deconinck, Lieve R.F. Claes, Liesbet Deprez, Katrien Smets, Dimitrina Hristova, Iglika Yordanova, Albena Jordanova, Berten Ce

Journal:

Annals of Neurology

Year:

2012

Language:

english

File:

PDF, 274 KB

english, 2012

2

Pediatric Ocular Sonography

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

Journal:

Seminars in Ultrasound, CT and MRI

Year:

2011

Language:

english

File:

PDF, 5.11 MB

english, 2011

3

Sonography of the Pediatric Gastrointestinal System

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

Journal:

Ultrasound Quarterly

Year:

2014

Language:

english

File:

PDF, 27.01 MB

english, 2014

4

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

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

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 996 KB

english, 2017

5

Medial temporal lobe dysgenesis in hypochondroplasia

Peter Kannu, Ian M Hayes, Simone Mandelstam, Leo Donnan, Ravi Savarirayan

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 146 KB

english, 2005

6

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

Savvas Andronikou, Simone Mandelstam, Stephen Fasulakis

Journal:

Journal of Medical Imaging and Radiation Oncology

Year:

2003

Language:

english

File:

PDF, 208 KB

english, 2003

7

MRI of optic disc edema in childhood idiopathic intracranial hypertension

Simone Mandelstam, Anna Moon

Journal:

Pediatric Radiology

Year:

2004

Language:

english

File:

PDF, 161 KB

english, 2004

8

Pulmonary capillary haemangiomatosis in a premature infant

Cicero J. T. A. Silva, John Massie, Simone A. Mandelstam

Journal:

Pediatric Radiology

Year:

2005

Language:

english

File:

PDF, 447 KB

english, 2005

9

Angiographic features of 26 children with Takayasu's arteritis

Mignon McCulloch, Savvas Andronikou, Elizabeth Goddard, Paul Sinclair, John Lawrenson, Simone Mandelstam, Steve J. Beningfield, Alastair J. Millar

Journal:

Pediatric Radiology

Year:

2003

Language:

english

File:

PDF, 387 KB

english, 2003

10

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

M. Victoria Rodriguez-Casero, Simone Mandelstam, Andrew J. Kornberg, Robert G. Berkowitz

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2005

Language:

english

File:

PDF, 173 KB

english, 2005

11

Gliomatosis cerebri in a patient with Ollier disease

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

Journal:

Journal of Clinical Neuroscience

Year:

2011

Language:

english

File:

PDF, 629 KB

english, 2011

12

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

Guandalini, Michael, Butler, Andrew, Mandelstam, Simone

Journal:

Journal of Clinical Neuroscience

Year:

2014

Language:

english

File:

PDF, 1.46 MB

english, 2014

13

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

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

Journal:

Epilepsy Research

Year:

2013

Language:

english

File:

PDF, 1.67 MB

english, 2013

14

Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia

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

Journal:

Epilepsy Research

Year:

2015

Language:

english

File:

PDF, 1.05 MB

english, 2015

15

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility

Leventer, Richard J., Jansen, Floor E., Mandelstam, Simone A., Ho, Alice, Mohamed, Ismail, Sarnat, Harvey B., Kato, Mitsuhiro, Fukasawa, Tatsuya, Saitsu, Hirotomo, Matsumoto, Naomichi, Itoh, Masayuki,

Journal:

Year:

2014

Language:

english

File:

PDF, 195 KB

english, 2014

16

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

Orhan, Gökce, Bock, Merle, Schepers, Dorien, Ilina, Elena I., Reichel, Stephanie Nadine, Löffler, Heidi, Jezutkovic, Nicole, Weckhuysen, Sarah, Mandelstam, Simone, Suls, Arvid, Danker, Timm, Guenther,

Journal:

Annals of Neurology

Year:

2014

Language:

english

File:

PDF, 776 KB

english, 2014

17

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations

Scheffer, Ingrid E., Heron, Sarah E., Regan, Brigid M., Mandelstam, Simone, Crompton, Douglas E., Hodgson, Bree L., Licchetta, Laura, Provini, Federica, Bisulli, Francesca, Vadlamudi, Lata, Gecz, Joze

Journal:

Annals of Neurology

Year:

2014

Language:

english

File:

PDF, 294 KB

english, 2014

18

5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases

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

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 783 KB

english, 2013

19

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

Scerri, Thomas, Riseley, Jessica R., Gillies, Greta, Pope, Kate, Burgess, Rosemary, Mandelstam, Simone A., Dibbens, Leanne, Chow, Chung W., Maixner, Wirginia, Harvey, Anthony Simon, Jackson, Graeme D.

Journal:

Annals of Clinical and Translational Neurology

Year:

2015

Language:

english

File:

PDF, 286 KB

english, 2015

20

MRI evaluation of venous abnormalities in children with Sturge-Weber syndrome

Mandelstam, Simone, Andronikou, Savvas

Journal:

Journal of Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 786 KB

english, 2015

21

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

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

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 766 KB

english, 2016

22

Epileptic spasms are a feature of DEPDC5 mTORopathy

Carvill, Gemma L., Crompton, Douglas E., Regan, Brigid M., McMahon, Jacinta M., Saykally, Julia, Zemel, Matthew, Schneider, Amy L., Dibbens, Leanne, Howell, Katherine B., Mandelstam, Simone, Leventer,

Journal:

Neurology: Genetics

Year:

2015

Language:

english

File:

PDF, 602 KB

english, 2015

23

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

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

Journal:

Year:

2016

Language:

english

File:

PDF, 2.31 MB

english, 2016

24

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

Sim, Joe C., Scerri, Thomas, Fanjul-Fernández, Miriam, Riseley, Jessica R., Gillies, Greta, Pope, Kate, van Roozendaal, Hanna, Heng, Julian I., Mandelstam, Simone A., McGillivray, George, MacGregor, D

Journal:

Annals of Neurology

Year:

2016

Language:

english

File:

PDF, 561 KB

english, 2016

25

Acute spinal cord syndrome secondary to venous congestion

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

Journal:

Year:

2016

Language:

english

File:

PDF, 310 KB

english, 2016

26

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

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

Journal:

Year:

2017

Language:

english

File:

PDF, 1000 KB

english, 2017

27

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K + channel properties

Oliver, Karen L., Franceschetti, Silvana, Milligan, Carol J., Muona, Mikko, Mandelstam, Simone A., Canafoglia, Laura, Boguszewska-Chachulska, Anna M., Korczyn, Amos, Bisulli, Francesca, Di Bonaventura

Journal:

Annals of Neurology

Year:

2017

Language:

english

File:

PDF, 3.45 MB

english, 2017

28

The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients

Myers, Kenneth A., Mandelstam, Simone A., Ramantani, Georgia, Rushing, Elisabeth J., de Vries, Bert B., Koolen, David A., Scheffer, Ingrid E.

Journal:

Year:

2017

Language:

english

File:

PDF, 559 KB

english, 2017

29

Not all SCN1A epileptic encephalopathies are Dravet syndrome

Sadleir, Lynette G., Mountier, Emily I., Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A., Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C., Murali, Hema R.,

Journal:

Year:

2017

Language:

english

File:

PDF, 320 KB

english, 2017

30

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

Carvill, Gemma L., Liu, Aijie, Mandelstam, Simone, Schneider, Amy, Lacroix, Amy, Zemel, Matthew, McMahon, Jacinta M., Bello-Espinosa, Luis, Mackay, Mark, Wallace, Geoffrey, Waak, Michaela, Zhang, Jing

Journal:

Year:

2017

Language:

english

File:

PDF, 803 KB

english, 2017

31

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

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

Journal:

Year:

2018

Language:

english

File:

PDF, 2.85 MB

english, 2018

32

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

Howell, Katherine B., Eggers, Stefanie, Dalziel, Kim, Riseley, Jessica, Mandelstam, Simone, Myers, Candace T., McMahon, Jacinta M., Schneider, Amy, Carvill, Gemma L., Mefford, Heather C., Scheffer, In

Journal:

Year:

2018

Language:

english

File:

PDF, 1004 KB

english, 2018

33

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

Medley, Tanya L, Miteff, Christina, Andrews, Ian, Ware, Tyson, Cheung, Michael, Monagle, Paul, Mandelstam, Simone, Wray, Alison, Pridmore, Clair, Troedson, Christopher, Dale, Russell C, Fahey, Michael

Journal:

International Journal of Stroke

Year:

2018

Language:

english

File:

PDF, 4.72 MB

english, 2018

34

Dorsal language stream anomalies in an inherited speech disorder

Liégeois, Frédérique J, Turner, Samantha J, Mayes, Angela, Bonthrone, Alexandra F, Boys, Amber, Smith, Libby, Parry-Fielder, Bronwyn, Mandelstam, Simone, Spencer-Smith, Megan, Bahlo, Melanie, Scerri,

Journal:

Year:

2019

Language:

english

File:

PDF, 614 KB

english, 2019

35

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

Lee, Wei Shern, Stephenson, Sarah E. M., Howell, Katherine B., Pope, Kate, Gillies, Greta, Wray, Alison, Maixner, Wirginia, Mandelstam, Simone A., Berkovic, Samuel F., Scheffer, Ingrid E., MacGregor,

Journal:

Annals of Clinical and Translational Neurology

Year:

2019

Language:

english

File:

PDF, 2.16 MB

english, 2019

36

Neuronal ceroid lipofuscinosis type 2: an Australian case series

Johnson, Alexandra M, Mandelstam, Simone, Andrews, Ian, Boysen, Katja, YaplitoâLee, Joy, Fietz, Michael, Nagarajan, Lakshmi, RodriguezâCasero, Victoria, Ryan, Monique M, Smith, Nicholas, Scheffer,

Journal:

Journal of Paediatrics and Child Health

Year:

2020

File:

PDF, 597 KB

2020

37

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

Stamberger, Hannah, Hammer, Trine B., Gardella, Elena, Vlaskamp, Danique R. M., Bertelsen, Birgitte, Mandelstam, Simone, de Lange, Iris, Zhang, Jing, Myers, Candace T., Fenger, Christina, Afawi, Zaid,

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 1.54 MB

2020