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| | Publication Year | Title | Author(s) |
| 281 | Dec-2015 | Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy | Schoeler, Natasha E; Leu, Costin; White, Jon; Plagnol, Vincent; Ellard, Sian; Matarin, Mar; Yellen, Gary; Thiele, Elizabeth A; Mackay, Mark; McMahon, Jacinta M; Scheffer, Ingrid E ; Sander, Josemir W; Cross, J Helen; Sisodiya, Sanjay M |
| 282 | Nov-2015 | Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy | Damiano, John A; Mullen, Saul A ; Hildebrand, Michael S ; Bellows, Susannah T; Lawrence, Kate M; Arsov, Todor; Dibbens, Leanne M; Major, Heather; Dahl, Hans-Henrik M; Mefford, Heather C; Darbro, Benjamin W; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 283 | 26-Sep-2015 | Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. | Panagiotakaki, Eleni; De Grandis, Elisa; Stagnaro, Michela; Heinzen, Erin L; Fons, Carmen; Sisodiya, Sanjay; de Vries, Boukje; Goubau, Christophe; Weckhuysen, Sarah; Kemlink, David; Scheffer, Ingrid E ; Lesca, Gaëtan; Rabilloud, Muriel; Klich, Amna; Ramirez-Camacho, Alia; Ulate-Campos, Adriana; Campistol, Jaume; Giannotta, Melania; Moutard, Marie-Laure; Doummar, Diane; Hubsch-Bonneaud, Cecile; Jaffer, Fatima; Cross, Helen; Gurrieri, Fiorella; Tiziano, Danilo; Nevsimalova, Sona; Nicole, Sophie; Neville, Brian; van den Maagdenberg, Arn M J M; Mikati, Mohamad; Goldstein, David B; Vavassori, Rosaria; Arzimanoglou, Alexis |
| 284 | 7-May-2015 | Mutation of the Nuclear Lamin Gene LMNB2 in Progressive Myoclonus Epilepsy with Early Ataxia. | Damiano, John Anthony; Afawi, Zaid; Bahlo, Melanie; Mauermann, Monika; Misk, Adel; Arsov, Todor; Oliver, Karen L; Dahl, Hans-Henrik M; Shearer, A Eliot; Smith, Richard J H; Hall, Nathan E; Mahmood, Khalid; Leventer, Richard J; Scheffer, Ingrid E ; Muona, Mikko; Lehesjoki, Anna-Elina; Korczyn, Amos D; Hermann, Harald; Berkovic, Samuel F ; Hildebrand, Michael S |
| 285 | 9-Apr-2015 | Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. | Carvill, Gemma L; McMahon, Jacinta M; Schneider, Amy; Zemel, Matthew; Myers, Candace T; Saykally, Julia; Nguyen, John; Robbiano, Angela; Zara, Federico; Specchio, Nicola; Mecarelli, Oriano; Smith, Robert L; Leventer, Richard J; Møller, Rikke S; Nikanorova, Marina; Dimova, Petia; Jordanova, Albena; Petrou, Steven; Helbig, Ingo; Striano, Pasquale; Weckhuysen, Sarah; Berkovic, Samuel F ; Scheffer, Ingrid E ; Mefford, Heather C |
| 286 | 17-Mar-2015 | CHD2 variants are a risk factor for photosensitivity in epilepsy. | Galizia, Elizabeth C; Myers, Candace T; Leu, Costin; de Kovel, Carolien G F; Afrikanova, Tatiana; Cordero-Maldonado, Maria Lorena; Martins, Teresa G; Jacmin, Maxime; Drury, Suzanne; Krishna Chinthapalli, V; Muhle, Hiltrud; Pendziwiat, Manuela; Sander, Thomas; Ruppert, Ann-Kathrin; Møller, Rikke S; Thiele, Holger; Krause, Roland; Schubert, Julian; Lehesjoki, Anna-Elina; Nürnberg, Peter; Lerche, Holger; Palotie, Aarno; Coppola, Antonietta; Striano, Salvatore; Gaudio, Luigi Del; Boustred, Christopher; Schneider, Amy L ; Lench, Nicholas; Jocic-Jakubi, Bosanka; Covanis, Athanasios; Capovilla, Giuseppe; Veggiotti, Pierangelo; Piccioli, Marta; Parisi, Pasquale; Cantonetti, Laura; Sadleir, Lynette G; Mullen, Saul A ; Berkovic, Samuel F ; Stephani, Ulrich; Helbig, Ingo; Crawford, Alexander D; Esguerra, Camila V; Kasteleijn-Nolst Trenité, Dorothee G A; Koeleman, Bobby P C; Mefford, Heather C; Scheffer, Ingrid E ; Sisodiya, Sanjay M |
| 287 | 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 |
| 288 | 16-Feb-2015 | "It's good to know": Experiences of gene identification and result disclosure in familial epilepsies. | Vears, Danya F; Dunn, Karen L; Wake, Samantha A; Scheffer, Ingrid E |
| 289 | 11-Feb-2015 | CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. | 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 |
| 290 | 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 |
| 291 | 17-Nov-2014 | A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. | Muona, Mikko; Berkovic, Samuel F ; Dibbens, Leanne M; Oliver, Karen L; Maljevic, Snezana; Bayly, Marta A; Joensuu, Tarja; Canafoglia, Laura; Franceschetti, Silvana; Michelucci, Roberto; Markkinen, Salla; Heron, Sarah E; Hildebrand, Michael S ; Andermann, Eva; Andermann, Frederick; Gambardella, Antonio; Tinuper, Paolo; Licchetta, Laura; Scheffer, Ingrid E ; Criscuolo, Chiara; Filla, Alessandro; Ferlazzo, Edoardo; Ahmad, Jamil; Ahmad, Adeel; Baykan, Betul; Said, Edith; Topcu, Meral; Riguzzi, Patrizia; King, Mary D; Ozkara, Cigdem; Andrade, Danielle M; Engelsen, Bernt A; Crespel, Arielle; Lindenau, Matthias; Lohmann, Ebba; Saletti, Veronica; Massano, João; Privitera, Michael; Espay, Alberto J; Kauffmann, Birgit; Duchowny, Michael; Møller, Rikke S; Straussberg, Rachel; Afawi, Zaid; Ben-Zeev, Bruria; Samocha, Kaitlin E; Daly, Mark J; Petrou, Steven; Lerche, Holger; Palotie, Aarno; Lehesjoki, Anna-Elina |
| 292 | 22-Sep-2014 | Lamotrigine can be beneficial in patients with Dravet syndrome. | Dalic, Linda; Mullen, Saul A ; Roulet Perez, Eliane; Scheffer, Ingrid E |
| 293 | 14-Sep-2014 | Refining analyses of copy number variation identifies specific genes associated with developmental delay. | Coe, Bradley P; Witherspoon, Kali; Rosenfeld, Jill A; van Bon, Bregje W M; Vulto-van Silfhout, Anneke T; Bosco, Paolo; Friend, Kathryn L; Baker, Carl; Buono, Serafino; Vissers, Lisenka E L M; Schuurs-Hoeijmakers, Janneke H; Hoischen, Alex; Pfundt, Rolph; Krumm, Nik; Carvill, Gemma L; Li, Deana; Amaral, David; Brown, Natasha; Lockhart, Paul J; Scheffer, Ingrid E ; Alberti, Antonino; Shaw, Marie; Pettinato, Rosa; Tervo, Raymond; de Leeuw, Nicole; Reijnders, Margot R F; Torchia, Beth S; Peeters, Hilde; O'Roak, Brian J; Fichera, Marco; Hehir-Kwa, Jayne Y; Shendure, Jay; Mefford, Heather C; Haan, Eric; Gécz, Jozef; de Vries, Bert B A; Romano, Corrado; Eichler, Evan E |
| 294 | 21-Aug-2014 | Somatic mutations in cerebral cortical malformations. | Jamuar, Saumya S; Lam, Anh-Thu N; Kircher, Martin; D'Gama, Alissa M; Wang, Jian; Barry, Brenda J; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E ; Berkovic, Samuel F ; Leventer, Richard J; Shen, Yiping; Wu, Bai Lin; Barkovich, A James; Sahin, Mustafa; Chang, Bernard S; Bamshad, Michael; Nickerson, Deborah A; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W; Walsh, Christopher A |
| 295 | 12-Aug-2014 | Epilepsy: Beyond the single nucleotide variant in epilepsy genetics. | Scheffer, Ingrid E ; Mefford, Heather C |
| 296 | 8-Aug-2014 | Genetics of epilepsy: The testimony of twins in the molecular era. | Vadlamudi, Lata; Milne, Roger L; Lawrence, Kate M; Heron, Sarah E; Eckhaus, Jazmin; Keay, Deborah; Connellan, Mary; Torn-Broers, Yvonne; Howell, R Anne; Mulley, John C; Scheffer, Ingrid E ; Dibbens, Leanne M; Hopper, John L; Berkovic, Samuel F |
| 297 | 1-Aug-2014 | Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases. | Bagnall, Richard D; Crompton, Douglas E; Cutmore, Carina; Regan, Brigid M; Berkovic, Samuel F ; Scheffer, Ingrid E ; Semsarian, Christopher |
| 298 | 1-Aug-2014 | Transition to adult life in the monogenic epilepsies. | Scheffer, Ingrid E ; Dravet, Charlotte |
| 299 | 9-Jul-2014 | Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes. | Oliver, Karen L; Lukic, Vesna; Thorne, Natalie P; Berkovic, Samuel F ; Scheffer, Ingrid E ; Bahlo, Melanie |
| 300 | 16-Jun-2014 | 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. | Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S ; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; Schoch, Susanne; Becker, Albert J; Hahn, Andreas; Männik, Katrin; Toliat, Mohammad R; Winterer, Georg; Lerche, Holger; Nürnberg, Peter; Mefford, Heather C; Scheffer, Ingrid E ; Berkovic, Samuel F ; Beckmann, Jacques S; Sander, Thomas; Jacquemont, Sebastien; Reymond, Alexandre; Zimprich, Fritz; Neubauer, Bernd A |
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0000-0002-2311-2174