|
| | Publication Year | Title | Author(s) |
| 301 | 21-Mar-2013 | Genetics of febrile seizure subtypes and syndromes: a twin study. | Eckhaus, Jazmin; Lawrence, Kate M; Helbig, Ingo; Bui, Minh; Vadlamudi, Lata; Hopper, John L; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 302 | 1-Aug-2003 | The genetics of human epilepsy. | Scheffer, Ingrid E ; Berkovic, Samuel F |
| 303 | 16-May-1999 | Genetics of partial epilepsies. | Berkovic, Samuel F ; Steinlein, O K |
| 304 | 2001 | Genetics of the epilepsies. | Berkovic, Samuel F ; Scheffer, Ingrid E |
| 305 | 1-Apr-1999 | Genetics of the epilepsies. | Berkovic, Samuel F ; Scheffer, Ingrid |
| 6 | 1-Jan-2011 | Genetics of the epilepsies: channelopathies and beyond. | Scheffer, Ingrid E |
| 7 | 1-Feb-2010 | Genetics of the epilepsies: genetic twists in the channels and other tales. | Scheffer, Ingrid E ; Zhang, Yue-Hua; Gecz, Jozef; Dibbens, Leanne M |
| 8 | 12-Apr-2014 | Genetics of vasovagal syncope. | Klein, Karl Martin; Berkovic, Samuel F |
| 9 | 18-Apr-2022 | Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes. | Skotte, Line; Fadista, João; Bybjerg-Grauholm, Jonas; Appadurai, Vivek; Hildebrand, Michael S ; Hansen, Thomas F; Banasik, Karina; Grove, Jakob; Albiñana, Clara; Geller, Frank; Bjurström, Carmen F; Vilhjálmsson, Bjarni J; Coleman, Matthew; Damiano, John A; Burgess, Rosemary; Scheffer, Ingrid E ; Pedersen, Ole Birger Vesterager; Erikstrup, Christian; Westergaard, David; Nielsen, Kaspar René; Sørensen, Erik; Bruun, Mie Topholm; Liu, Xueping; Hjalgrim, Henrik; Pers, Tune H; Mortensen, Preben Bo; Mors, Ole; Nordentoft, Merete; Dreier, Julie W; Børglum, Anders D; Christensen, Jakob; Hougaard, David M; Buil, Alfonso; Hviid, Anders; Melbye, Mads; Ullum, Henrik; Berkovic, Samuel F ; Werge, Thomas; Feenstra, Bjarke |
| 10 | Aug-2018 | Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy. | Schoeler, Natasha E; Leu, Costin; Balestrini, Simona; Mudge, Jonathan M; Steward, Charles A; Frankish, Adam; Leung, Mary-Anne; Mackay, Mark; Scheffer, Ingrid E ; Williams, Ruth; Sander, Josemir W; Cross, J Helen; Sisodiya, Sanjay M |
| 11 | 14-Oct-2020 | Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. | Palencia-Campos, Adrian; Aoto, Phillip C; Machal, Erik M F; Rivera-Barahona, Ana; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Van Hul, Wim; Huber, Celine; Bonneau, Dominique; Hildebrand, Michael S ; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F ; Schneider, Amy L ; Scheffer, Ingrid E ; Kibæk, Maria; Kristiansen, Britta S; Issa, Mahmoud Y; Mehrez, Mennat I; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Skålhegg, Bjørn Steen; Otaify, Ghada A; Temtamy, Samia; Aglan, Mona; Jønch, Aia E; De Luca, Alessandro; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, Alban; Wallis, Mathew J ; Lapunzina, Pablo; Herberg, Friedrich W; Taylor, Susan S; Ruiz-Perez, Victor L |
| 12 | 5-May-2016 | Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. | Petrovski, Slavé; Küry, Sébastien; Myers, Candace T; Anyane-Yeboa, Kwame; Cogné, Benjamin; Bialer, Martin; Xia, Fan; Hemati, Parisa; Riviello, James; Mehaffey, Michele; Besnard, Thomas; Becraft, Emily; Wadley, Alexandrea; Politi, Anya Revah; Colombo, Sophie; Zhu, Xiaolin; Ren, Zhong; Andrews, Ian; Dudding-Byth, Tracy; Schneider, Amy L ; Wallace, Geoffrey; Rosen, Aaron B I; Schelley, Susan; Enns, Gregory M; Corre, Pierre; Dalton, Joline; Mercier, Sandra; Latypova, Xénia; Schmitt, Sébastien; Guzman, Edwin; Moore, Christine; Bier, Louise; Heinzen, Erin L; Karachunski, Peter; Shur, Natasha; Grebe, Theresa; Basinger, Alice; Nguyen, Joanne M; Bézieau, Stéphane; Wierenga, Klaas; Bernstein, Jonathan A; Scheffer, Ingrid E ; Rosenfeld, Jill A; Mefford, Heather C; Isidor, Bertrand; Goldstein, David B |
| 13 | 2022 | Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. | Stephenson, Sarah E M; Costain, Gregory; Blok, Laura E R; Silk, Michael A; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E; Dowling, James J; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z; Björnsson, Hans Tómas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew J ; Jansen, Sandra; Weisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M; Ascher, David B; Schenck, Annette; Lockhart, Paul J; Christodoulou, John; Tan, Tiong Yang; Rodan, Lance H; Schwartz, Marc A; Picker, Jonathan; Lynch, Sally A; Gupta, Aditi; Rasmussen, Kristen J; Schimmenti, Lisa A; Klee, Eric W; Niu, Zhiyv; Agre, Katherine E; Chilton, Ilana; Chung, Wendy K; Revah-Politi, Anya; Au, P Y Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E; Sapp, Katie; Willems, Marjolaine; Bruel, Ange-Line; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E L; Zhu, Ying; Baker, Joshua J; Scheffer, Ingrid E ; Gardiner, Fiona J; Schneider, Amy L ; Muir, Alison M; Mefford, Heather C; Crunk, Amy; Heise, Elizabeth M; Millan, Francisca; Monaghan, Kristin G; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M; Cogné, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J; Boyce, Jessica O; Morgan, Angela T; Hildebrand, Michael S ; Kaspi, Antony; Bahlo, Melanie; Friðriksdóttir, Rún; Katrínardóttir, Hildigunnur; Sulem, Patrick; Stefánsson, Kári |
| 14 | 31-Jan-2014 | Glucose metabolism transporters and epilepsy: only GLUT1 has an established role. | Hildebrand, Michael S ; Damiano, John Anthony; Mullen, Saul A ; Bellows, Susannah T; Oliver, Karen L; Dahl, Hans-Henrik M; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 15 | 1-Nov-2012 | Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. | Arsov, Todor; Mullen, Saul A ; Rogers, Sue; Phillips, A Marie; Lawrence, Kate M; Damiano, John Anthony; Goldberg-Stern, Hadassa; Afawi, Zaid; Kivity, Sara; Trager, Chantal; Petrou, Steven; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 16 | Sep-2020 | Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group. | Klepper, Joerg; Akman, Cigdem; Armeno, Marisa; Auvin, Stéphane; Cervenka, Mackenzie; Cross, Helen J; De Giorgis, Valentina; Della Marina, Adela; Engelstad, Kristin; Heussinger, Nicole; Kossoff, Eric H; Leen, Wilhelmina G; Leiendecker, Baerbel; Monani, Umrao R; Oguni, Hirokazu; Neal, Elizabeth; Pascual, Juan M; Pearson, Toni S; Pons, Roser; Scheffer, Ingrid E ; Veggiotti, Pierangelo; Willemsen, Michél; Zuberi, Sameer M; De Vivo, Darryl C |
| 17 | Jun-2017 | Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. | Ewans, Lisa J; Field, Michael; Zhu, Ying; Turner, Gillian; Leffler, Melanie; Dinger, Marcel E; Cowley, Mark J; Buckley, Michael F; Scheffer, Ingrid E ; Jackson, Matilda R; Roscioli, Tony; Shoubridge, Cheryl |
| 18 | 16-Jan-2015 | GRIN2A: an aptly named gene for speech dysfunction. | Turner, Samantha J; Mayes, Angela K; Verhoeven, Andrea; Mandelstam, Simone A; Morgan, Angela T; Scheffer, Ingrid E |
| 19 | Jul-2017 | GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. | Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Döcker, Dennis; Strom, Tim M; Mefford, Heather C; Myers, Candace T; Muir, Alison M; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E ; Brilstra, Eva; van Haelst, Mieke M; van der Smagt, Jasper J; Bok, Levinus A; Møller, Rikke S; Jensen, Uffe B; Millichap, John J; Berg, Anne T; Goldberg, Ethan M; De Bie, Isabelle; Fox, Stephanie; Major, Philippe; Jones, Julie R; Zackai, Elaine H; Abou Jamra, Rami; Rolfs, Arndt; Leventer, Richard J; Lawson, John A; Roscioli, Tony; Jansen, Floor E; Ranza, Emmanuelle; Korff, Christian M; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; Smith, Douglas R; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; Tarnopolsky, Mark A; Brady, Lauren I; Wolff, Markus; Dondit, Lutz; Pedro, Helio F; Parisotto, Sarah E; Jones, Kelly L; Patel, Anup D; Franz, David N; Vanzo, Rena; Marco, Elysa; Ranells, Judith D; Di Donato, Nataliya; Dobyns, William B; Laube, Bodo; Traynelis, Stephen F; Lemke, Johannes R |
| 20 | 21-Apr-2021 | Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. | Mole, Sara E; Schulz, Angela; Badoe, Eben; Berkovic, Samuel F ; de Los Reyes, Emily C; Dulz, Simon; Gissen, Paul; Guelbert, Norberto; Lourenco, Charles M; Mason, Heather L; Mink, Jonathan W; Murphy, Noreen; Nickel, Miriam; Olaya, Joffre E; Scarpa, Maurizio; Scheffer, Ingrid E ; Simonati, Alessandro; Specchio, Nicola; Von Löbbecke, Ina; Wang, Raymond Y; Williams, Ruth E |
