|
| | Publication Year | Title | Author(s) |
| 161 | 26-Dec-2023 | Distinctive in vitro phenotypes in iPSC-derived neurons from patients with gain- and loss-of-function SCN2A developmental and epileptic encephalopathy. | Mao, Miaomiao; Mattei, Cristiana; Rollo, Ben; Byars, Sean; Cuddy, Claire; Berecki, Geza; Heighway, Jacqueline; Pachernegg, Svenja; Menheniott, Trevelyan; Apted, Danielle; Jia, Linghan; Dalby, Kelley; Nemiroff, Alex; Mullen, Saul A ; Reid, Christopher A; Maljevic, Snezana; Petrou, Steven |
| 2 | 19-Apr-2011 | A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence. | Klein, K M; Yendle, S C; Harvey, A Simon; Antony, J H; Wallace, G; Bienvenu, T; Scheffer, Ingrid E |
| 3 | Dec-2022 | The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. | Fennell, Andrew Paul; Baxter, Anne Elizabeth; Berkovic, Samuel Frank; Ellaway, Carolyn Jane; Forwood, Caitlin; Hildebrand, Michael S ; Kumble, Smitha; McKeown, Colina; Mowat, David; Poke, Gemma; Rajagopalan, Sulekha; Regan, Brigid M; Scheffer, Ingrid E ; Stark, Zornitza; Stutterd, Chloe Alice; Tan, Tiong Yang; Wilkins, Ella Jane; Yeung, Alison; Hunter, Matthew Frank |
| 4 | 2022 | "Do I still have epilepsy?" Epilepsy identity 15-20 years after anterior temporal lobectomy. | Coleman, Honor; McIntosh, Anne M ; Wilson, Sarah J |
| 5 | 20-Nov-2012 | Do mutations in SCN1B cause Dravet syndrome? | Kim, Young Ok; Dibbens, Leanne M; Marini, Carla; Suls, Arvid; Chemaly, Nicole; Mei, Davide; McMahon, Jacinta M; Iona, Xenia; Berkovic, Samuel F ; De Jonghe, Peter; Guerrini, Renzo; Nabbout, Rima; Scheffer, Ingrid E |
| 6 | 9-Mar-2009 | Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? | Sijben, Angelique E J; Sithinamsuwan, Pasiri; Radhakrishnan, Ashalata; Badawy, Radwa A B; Dibbens, Leanne M; Mazarib, Aziz; Lev, Dorit; Lerman-Sagie, Tally; Straussberg, Rachel; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 7 | Dec-2022 | Does long-term phenytoin have a place in Dravet syndrome? | Zographos, George A; Russ-Hall, Sophie J; Scheffer, Ingrid E |
| 8 | 10-Jan-2014 | Does variation in NIPA2 contribute to genetic generalized epilepsy? | Hildebrand, Michael S ; Damiano, John Anthony; Mullen, Saul A ; Bellows, Susannah T; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 9 | 8-Nov-2016 | Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy | Corbett, Mark A; Bellows, Susannah T; Li, Melody; Carroll, Renée; Micallef, Silvana ; Carvill, Gemma L; Myers, Candace T; Howell, Katherine B; Maljevic, Snezana; Lerche, Holger; Gazina, Elena V; Mefford, Heather C; Bahlo, Melanie; Berkovic, Samuel F ; Petrou, Steven; Scheffer, Ingrid E ; Gecz, Jozef |
| 10 | 1-May-2020 | Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial. | Miller, Ian; Scheffer, Ingrid E ; Gunning, Boudewijn; Sanchez-Carpintero, Rocio; Gil-Nagel, Antonio; Perry, M Scott; Saneto, Russell P; Checketts, Daniel; Dunayevich, Eduardo; Knappertz, Volker |
| 11 | Jun-2019 | Double somatic mosaicism in a child with Dravet syndrome. | Muir, Alison M; King, Chontelle; Schneider, Amy L ; Buttar, Aman S; Scheffer, Ingrid E ; Sadleir, Lynette G; Mefford, Heather C |
| 12 | 1-Dec-1996 | A double-blind, placebo-controlled crossover study of vigabatrin 2 g/day and 3 g/day in uncontrolled partial seizures. | Beran, R G; Berkovic, Samuel F ; Buchanan, N; Danta, G; Mackenzie, R; Schapel, G; Sheean, G; Vajda, F |
| 13 | 8-Feb-2009 | Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? | Scheffer, Ingrid E ; Zhang, Yue-Hua; Jansen, Floor E; Dibbens, Leanne M |
| 14 | Nov-2021 | Dravet syndrome: A quick transition guide for the adult neurologist. | Andrade, Danielle M; Berg, Anne T; Hood, Veronica; Knupp, Kelly G; Koh, Sookyong; Laux, Linda; Meskis, Mary Anne; Miller, Ian; Perry, M Scott; Scheffer, Ingrid E ; Sullivan, Joseph; Villas, Nicole; Wirrell, Elaine |
| 15 | 12-Jun-2018 | Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. | Berecki, Géza; Howell, Katherine B; Deerasooriya, Yadeesha H; Cilio, Maria Roberta; Oliva, Megan K; Kaplan, David; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven |
| 16 | 24-Oct-2014 | The dynamics of the epileptic brain reveal long-memory processes. | Cook, Mark J; Varsavsky, Andrea; Himes, David; Leyde, Kent; Berkovic, Samuel F ; O'Brien, Terence; Mareels, Iven |
| 17 | 21-Feb-2017 | Dysarthria and broader motor speech deficits in Dravet syndrome | Turner, Samantha J; Brown, Amy; Arpone, Marta; Anderson, Vicki; Morgan, Angela T; Scheffer, Ingrid E |
| 18 | 1-Feb-1992 | Dystonia, clinical lateralization, and regional blood flow changes in temporal lobe seizures. | Newton, Mark R; Berkovic, Samuel F ; Austin, M C; Reutens, David C; McKay, W J; Bladin, Peter F |
| 19 | 13-Oct-2016 | Early neuroimaging markers of FOXP2 intragenic deletion | Liégeois, Frédérique J; Hildebrand, Michael S ; Bonthrone, Alexandra; Turner, Samantha J; Scheffer, Ingrid E ; Bahlo, Melanie; Connelly, Alan; Morgan, Angela T |
| 20 | 25-Oct-2012 | Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. | Arsov, Todor; Mullen, Saul A ; Damiano, John Anthony; Lawrence, Kate M; Huh, Linda L; Nolan, Melinda; Young, Helen ; Thouin, Anaïs; Dahl, Hans-Henrik M; Berkovic, Samuel F ; Crompton, Douglas E; Sadleir, Lynette G; Scheffer, Ingrid E |
