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| | Publication Year | Title | Author(s) |
| 541 | Dec-2019 | SCN1A-related phenotypes: Epilepsy and beyond. | Scheffer, Ingrid E ; Nabbout, Rima |
| 542 | Jul-2016 | SCN8A encephalopathy: Research progress and prospects. | Meisler, Miriam H; Helman, Guy; Hammer, Michael F; Fureman, Brandy E; Gaillard, William D; Goldin, Alan L; Hirose, Shinichi; Ishii, Atsushi; Kroner, Barbara L; Lossin, Christoph; Mefford, Heather C; Parent, Jack M; Patel, Manoj; Schreiber, John; Stewart, Randall; Whittemore, Vicky; Wilcox, Karen; Wagnon, Jacy L; Pearl, Phillip L; Vanderver, Adeline; Scheffer, Ingrid E |
| 543 | 1-Oct-2001 | Seizure outcome after temporal lobectomy: current research practice and findings. | McIntosh, A M; Wilson, Sarah J; Berkovic, Samuel F |
| 544 | 1-Jan-1994 | Seizure outcome and pathological findings following temporal lobectomy in patients with complex partial seizures and foreign tissue lesions seen only on MRI. | Murphy, M A; Fabinyi, Gavin C ; Berkovic, Samuel F ; Kalnins, Renate M; Bladin, Peter F |
| 545 | 1-May-2002 | Seizure-associated hippocampal volume loss: a longitudinal magnetic resonance study of temporal lobe epilepsy. | Briellmann, Regula S; Berkovic, Samuel F ; Syngeniotis, Ari; King, Mark A; Jackson, Graeme D |
| 546 | 12-Mar-2015 | Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. | Paemka, Lily; Mahajan, Vinit B; Ehaideb, Salleh N; Skeie, Jessica M; Tan, Men Chee; Wu, Shu; Cox, Allison J; Sowers, Levi P; Gecz, Jozef; Jolly, Lachlan; Ferguson, Polly J; Darbro, Benjamin W; Schneider, Amy; Scheffer, Ingrid E ; Carvill, Gemma L; Mefford, Heather C; El-Shanti, Hatem; Wood, Stephen A; Manak, J Robert; Bassuk, Alexander G |
| 547 | Apr-2016 | Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation | Benninger, Felix; Afawi, Zaid; Korczyn, Amos D; Oliver, Karen L; Pendziwiat, Manuela; Masayuki, Nakamura; Sano, Akira; Helbig, Ingo; Berkovic, Samuel F ; Blatt, Ilan |
| 548 | 27-Nov-2001 | Seizures in family members of patients with hippocampal sclerosis. | Briellmann, Regula S; Torn-Broers, Y; Jackson, Graeme D ; Berkovic, Samuel F |
| 549 | 2021 | Seizures in Sotos syndrome: Phenotyping in 49 patients. | Fortin, Olivier; Vincelette, Christian; Khan, Afsheen Q; Berrahmoune, Saoussen; Dassi, Christelle; Karimi, Mitra; Scheffer, Ingrid E ; Lu, Jun; Davis, Kellie; Myers, Kenneth A |
| 550 | Jan-2021 | Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants. | Alawadhi, Abdulla; Morgan, Angela T; Mucha, Bettina E; Scheffer, Ingrid E ; Myers, Kenneth A |
| 551 | 21-Mar-2022 | Self-reported impact of developmental stuttering across the lifespan. | Boyce, Jessica O; Jackson, Victoria E; van Reyk, Olivia; Parker, Richard; Vogel, Adam P; Eising, Else; Horton, Sarah E; Gillespie, Nathan A; Scheffer, Ingrid E ; Amor, David J; Hildebrand, Michael S ; Fisher, Simon E; Martin, Nicholas G; Reilly, Sheena; Bahlo, Melanie; Morgan, Angela T |
| 552 | 5-Dec-2023 | Self-Reported Stuttering Severity Is Accurate: Informing Methods for Large-Scale Data Collection in Stuttering. | Horton, Sarah; Jackson, Victoria; Boyce, Jessica; Franken, Marie-Christine; Siemers, Stephanie; John, Miya St; Hearps, Stephen; van Reyk, Olivia; Braden, Ruth; Parker, Richard; Vogel, Adam P; Eising, Else; Amor, David J; Irvine, Janelle; Fisher, Simon E; Martin, Nicholas G; Reilly, Sheena; Bahlo, Melanie; Scheffer, Ingrid E ; Morgan, Angela |
| 553 | Dec-2017 | Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome | Damiano, John A; Do, Hongdo; Ozturk, Ezgi; Burgess, Rosemary; Kalnins, Renate; Jones, Nigel C; Dobrovic, Alexander ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 554 | 5-Sep-2019 | Serum sodium and intracranial pressure changes after desmopressin therapy in severe traumatic brain injury patients: a multi-centre cohort study. | Harrois, A; Anstey, J R; Taccone, F S; Udy, A A; Citerio, G; Duranteau, J; Ichai, C; Badenes, R; Prowle, J R; Ercole, A; Oddo, M; Schneider, A ; van der Jagt, M; Wolf, S; Helbok, R; Nelson, D W; Skrifvars, M B; Cooper, D J; Bellomo, Rinaldo |
| 555 | May-2020 | Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. | Hildebrand, Michael S ; Jackson, Victoria E; Scerri, Thomas S; Van Reyk, Olivia; Coleman, Matthew J; Braden, Ruth O; Turner, Samantha; Rigbye, Kristin A; Boys, Amber; Barton, Sarah; Webster, Richard; Fahey, Michael; Saunders, Kerryn; Parry-Fielder, Bronwyn; Paxton, Georgia; Hayman, Michael; Coman, David; Goel, Himanshu; Baxter, Anne; Ma, Alan; Davis, Noni; Reilly, Sheena; Delatycki, Martin; Liégeois, Frederique J; Connelly, Alan; Gecz, Jozef; Fisher, Simon E; Amor, David J; Scheffer, Ingrid E ; Bahlo, Melanie; Morgan, Angela T |
| 556 | 4-Dec-2023 | Severe Communication Delays Are Independent of Seizure Burden and Persist Despite Contemporary Treatments in SCN1A+ Dravet Syndrome: Insights from the ENVISION Natural History Study. | Perry, M Scott; Scheffer, Ingrid E ; Sullivan, Joseph; Brunklaus, Andreas; Boronat, Susana; Wheless, James W; Laux, Linda; Patel, Anup D; Roberts, Colin M; Dlugos, Dennis; Holder, Deborah; Knupp, Kelly G; Lallas, Matt; Phillips, Steven; Segal, Eric; Smeyers, Patricia; Lal, Dennis; Wirrell, Elaine; Zuberi, Sameer; Brünger, Tobias; Wojnaroski, Mary; Maru, Benit; O'Donnell, Penrose; Morton, Magda; James, Emma; Vila, Maria Candida; Huang, Norman; Gofshteyn, Jacqueline S; Rico, Salvador |
| 557 | Feb-2021 | The severe epilepsy syndromes of infancy: A population-based study. | Howell, Katherine B; Freeman, Jeremy L; Mackay, Mark T; Fahey, Michael C; Archer, John S ; Berkovic, Samuel F ; Chan, Eunice; Dabscheck, Gabriel; Eggers, Stefanie; Hayman, Michael; Holberton, James; Hunt, Rodney W; Jacobs, Susan E; Kornberg, Andrew J; Leventer, Richard J; Mandelstam, Simone; McMahon, Jacinta M; Mefford, Heather C; Panetta, Julie; Riseley, Jessica; Rodriguez-Casero, Victoria; Ryan, Monique M; Schneider, Amy L ; Smith, Lindsay J; Stark, Zornitza; Wong, Flora; Yiu, Eppie M; Scheffer, Ingrid E ; Harvey, A Simon |
| 558 | Jan-2018 | 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; Yang, Xiaoling; Malone, Stephen; Zhang, Yue-Hua; Mefford, Heather C; Scheffer, Ingrid E |
| 559 | 1-Jul-2001 | Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? | Singh, R; Andermann, Eva; Whitehouse, W P; Harvey, A Simon; Keene, D L; Seni, M H; Crossland, Kathryn M; Andermann, Frederick; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 560 | 9-Jun-2021 | Severe speech impairment is a distinguishing feature of FOXP1-related disorder. | Braden, Ruth O; Amor, David J; Fisher, Simon E; Mei, Cristina; Myers, Candace T; Mefford, Heather; Gill, Deepak; Srivastava, Siddharth; Swanson, Lindsay C; Goel, Himanshu; Scheffer, Ingrid E ; Morgan, Angela T |
