11. Cerebrospinal fluid neurofilament light chain differentiates primary psychiatric disorders from rapidly progressive, Alzheimer's disease and frontotemporal disorders in clinical settings. Issue 11 (1st February 2022) Authors: Eratne, Dhamidhu; Loi, Samantha M.; Li, Qiao‐Xin; Stehmann, Christiane; Malpas, Charles B.; Santillo, Alexander; Janelidze, Shorena; Cadwallader, Claire; Walia, Nirbaanjot; Ney, Blair; Lewis, Victoria; Senesi, Matteo; Fowler, Christopher; McGlade, Amelia; Varghese, Shiji; Ravanfar, Parsa; Kelso, ... Journal: Alzheimer's & dementia Issue: Volume 18:Issue 11(2022) Page Start: 2218 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. (3rd March 2015) Authors: Thomas, Rhys H.; Zhang, Lin Mei; Carvill, Gemma L.; Archer, John S.; Heavin, Sinéad B.; Mandelstam, Simone A.; Craiu, Dana; Berkovic, Samuel F.; Gill, Deepak S.; Mefford, Heather C.; Scheffer, Ingrid E. Journal: Neurology Issue: Volume 84:Number 9(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Clinical and genetic analysis of a family with two rare reflex epilepsies. (July 2015) Authors: Kasteleijn-Nolst Trenité, Dorothée G.A.; Volkers, Linda; Strengman, Eric; Schippers, Herman M.; Perquin, Willem; de Haan, Gerrit-Jan; Gkountidi, Anastasia O.; Slot, Ruben van't; de Graaf, Stan F.; Jocic-Jakubi, Bosanka; Capovilla, Giuseppe; Covanis, Athanasios; Parisi, Pasquale; Veggiotti, Pieran... Journal: Seizure Issue: Volume 29(2015) Page Start: 90 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Clinical and genetic analysis of a family with two rare reflex epilepsies. (July 2015) Authors: Kasteleijn-Nolst Trenité, Dorothée G.A.; Volkers, Linda; Strengman, Eric; Schippers, Herman M.; Perquin, Willem; de Haan, Gerrit-Jan; Gkountidi, Anastasia O.; Slot, Ruben van't; van de Graaf, Stan F.; Jocic-Jakubi, Bosanka; Capovilla, Giuseppe; Covanis, Athanasios; Parisi, Pasquale; Veggiotti, Pi... Journal: Seizure Issue: Volume 29(2015) Page Start: 90 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Clinical genetic study of the epilepsy‐aphasia spectrum. (7th January 2013) Authors: Tsai, Meng‐Han; Vears, Danya F.; Turner, Samantha J.; Smith, Robert L.; Berkovic, Samuel F.; Sadleir, Lynette G.; Scheffer, Ingrid E. Journal: Epilepsia Issue: Volume 54:issue 2(2013:Feb.) Page Start: 280 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. Issue 2 (1st July 2015) Authors: Epilepsy Phenome/Genome Project & Epi4K Consortium; Allen, Andrew S.; Berkovic, Samuel F.; Coe, Bradley P.; Cook, Joseph; Cossette, Patrick; Delanty, Norman; Dlugos, Dennis; Eichler, Evan E.; Epstein, Michael P.; Glauser, Tracy; Goldstein, David B.; Heinzen, Erin L.; Johnson, Michael R.; Krum... Journal: Annals of neurology Issue: Volume 78:Issue 2(2015:Aug.) Page Start: 323 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Corrigendum to "Clinical and genetic analysis of a family with two rare reflex epilepsies" [Seizure – Eur. J. Epilepsy 29 (2015) 90–96]. (December 2015) Authors: Trenité, Dorothée G.A. Kasteleijn-Nolst; Volkers, Linda; Strengman, Eric; Schippers, Herman M.; Perquin, Willem; de Haan, Gerrit-Jan; Gkountidi, Anastasia O.; van't Slot, Ruben; van de Graaf, Stan F.; Jocic-Jakubi, Bosanka; Capovilla, Giuseppe; Covanis, Athanasios; Parisi, Pasquale; Veggiotti, Pi... Journal: Seizure Issue: Volume 33(2015) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Current practice in diagnostic genetic testing of the epilepsies. Issue 5 (3rd November 2022) Authors: Krey, Ilona; Platzer, Konrad; Esterhuizen, Alina; Berkovic, Samuel F.; Helbig, Ingo; Hildebrand, Michael S.; Lerche, Holger; Lowenstein, Daniel; Møller, Rikke S.; Poduri, Annapurna; Sadleir, Lynette; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Wilmshurst, Jo M.; Weber, Yvonne; Lemke, Johannes R. Journal: Epileptic disorders Issue: Volume 24:Issue 5(2022) Page Start: 765 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies. (2nd November 2021) Authors: Ye, Zimeng; Bennett, Mark F.; Bahlo, Melanie; Scheffer, Ingrid E.; Berkovic, Samuel F.; Perucca, Piero; Hildebrand, Michael S. Journal: Expert review of neurotherapeutics Issue: Volume 21:Number 11(2021) Page Start: 1309 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome. (13th January 2017) Authors: Myers, Kenneth A.; Burgess, Rosemary; Afawi, Zaid; Damiano, John A.; Berkovic, Samuel F.; Hildebrand, Michael S.; Scheffer, Ingrid E. Journal: Epilepsia Issue: Volume 58:issue 2(2017) Page Start: e26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗