1. 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases. Issue 10 (15th August 2013) Authors: Brown, Natasha; Burgess, Trent; Forbes, Robin; McGillivray, George; Kornberg, Andrew; Mandelstam, Simone; Stark, Zornitza Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2604 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy. (11th May 2018) Authors: 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, Ingrid E.; Harvey, A. Simon Journal: Epilepsia Issue: Volume 59:issue 6(2018) Page Start: 1177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Acute spinal cord syndrome secondary to venous congestion. (20th September 2016) Authors: Woodcock, Ian R.; Coscini, Nadia; Mandelstam, Simone; Rodriguez-Casero, Victoria; Dabscheck, Gabriel Journal: Neurology Issue: Volume 87:Number 12(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke. Issue 1 (January 2019) Authors: 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; Sinclair, Adriane; Walsh, Peter; Stojanovski, Belinda; Mackay, Mark T Journal: International journal of stroke Issue: Volume 14:Issue 1(2019) Page Start: 94 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical seizure manifestations in the absence of synaptic connections. Issue 1 (30th March 2021) Authors: Macdonald‐Laurs, Emma; Bailey, Catherine A.; Barton, Sarah; Yang, Joseph Yuan‐Mou; Mandelstam, Simone; Macgregor, Duncan; Lockhart, Paul J.; Leventer, Richard J.; Maixner, Wirginia J.; Harvey, A. Simon Journal: Epileptic disorders Issue: Volume 23:Issue 1(2021) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Issue 3 (18th March 2014) Authors: 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, Elke; Scheffer, Ingrid E.; De, Peter; Lerche, Holger; Maljevic, Snezana Journal: Annals of neurology Issue: Volume 75:Issue 3(2014:Mar.) Page Start: 382 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature. Issue 1 (15th November 2020) Authors: Heath, Oliver; Pitt, James; Mandelstam, Simone; Kuschel, Carl; Vasudevan, Anand; Donoghue, Sarah Journal: JIMD reports Issue: Volume 58:Issue 1(2021) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia. Issue 4 (11th November 2019) Authors: Oegema, Renske; McGillivray, George; Leventer, Richard; Le Moing, Anne‐Gaëlle; Bahi‐Buisson, Nadia; Barnicoat, Angela; Mandelstam, Simone; Francis, David; Francis, Fiona; Mancini, Grazia M. S.; Savelberg, Sanne; van Haaften, Gijs; Mankad, Kshitij; Lequin, Maarten H. Other Names: Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 4(2019) Page Start: 627 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania. Issue 3 (22nd July 2019) Authors: Ware, Tyson L.; Huskins, Shannon R.; Grinton, Bronwyn E.; Liu, Yu‐Chi; Bennett, Mark F.; Harvey, Michael; McMahon, Jacinta; Andreopoulos‐Malikotsinas, Danae; Bahlo, Melanie; Howell, Katherine B.; Hildebrand, Michael S.; Damiano, John A.; Rosenfeld, Alexander; Mackay, Mark T.; Mandelstam, Simone; ... Journal: Epilepsia open Issue: Volume 4:Issue 3(2019) Page Start: 504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Epileptic spasms are a feature of DEPDC5 mTORopathy. (August 2015) Authors: 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, Richard J.; Harvey, A. Simon; Mullen, Saul A.; Berkovic, Samuel F.; Sullivan, Joseph; Scheffer, ... Journal: Neurology Issue: Volume 1:Number 2(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗