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| | Publication Year | Title | Author(s) |
| 141 | Dec-2016 | Periventricular nodular heterotopia: detection of abnormal microanatomic fiber structures with whole-brain diffusion MR imaging tractography | Farquharson, Shawna ; Tournier, Jacques-Donald; Calamante, Fernando; Mandelstam, Simone A; Burgess, Rosemary; Schneider, Michal E; Berkovic, Samuel F ; Scheffer, Ingrid E ; Jackson, Graeme D ; Connelly, Alan |
| 2 | 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 |
| 3 | 26-Aug-2016 | Hippocampal malrotation is an anatomic variant and has no clinical significance in MRI-negative temporal lobe epilepsy | Tsai, Meng-Han; Vaughan, David N; Perchyonok, Yuliya ; Fitt, Gregory J ; Scheffer, Ingrid E ; Berkovic, Samuel F ; Jackson, Graeme D |
| 4 | 9-Aug-2016 | Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). | Berkovic, Samuel F ; Staropoli, John F; Carpenter, Stirling; Oliver, Karen L; Kmoch, Stanislav; Anderson, Glenn W; Damiano, John A; Hildebrand, Michael S ; Sims, Katherine B; Cotman, Susan L; Bahlo, Melanie; Smith, Katherine R; Cadieux-Dion, Maxime; Cossette, Patrick; Jedličková, Ivana; Přistoupilová, Anna; Mole, Sara E |
| 5 | 4-Aug-2016 | Mutations of the sonic hedgehog pathway underlie hypothalamic hamartoma with gelastic epilepsy | Hildebrand, Michael S ; Griffin, Nicole G; Damiano, John A; Cops, Elisa J; Burgess, Rosemary; Ozturk, Ezgi; Jones, Nigel C; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Sadleir, Lynette G; Scheffer, Ingrid E ; Major, Heather; Darbro, Benjamin W; Allen, Andrew S; Goldstein, David B; Kerrigan, John F; Berkovic, Samuel F ; Heinzen, Erin L |
| 6 | 1-Jul-2016 | Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2 | Henden, Lyndal; Freytag, Saskia; Afawi, Zaid; Baldassari, Sara; Berkovic, Samuel F ; Bisulli, Francesca; Canafoglia, Laura; Casari, Giorgio; Crompton, Douglas E; Depienne, Christel; Gecz, Jozef; Guerrini, Renzo; Helbig, Ingo; Hirsch, Edouard; Keren, Boris; Klein, Karl Martin; Labauge, Pierre; LeGuern, Eric; Licchetta, Laura; Mei, Davide; Nava, Caroline; Pippucci, Tommaso; Rudolf, Gabrielle; Scheffer, Ingrid E ; Striano, Pasquale; Tinuper, Paolo; Zara, Federico; Corbett, Mark A; Bahlo, Melanie |
| 7 | 10-May-2016 | Definition and diagnostic criteria of sleep-related hypermotor epilepsy. | Tinuper, Paolo; Bisulli, Francesca; Cross, J H; Hesdorffer, Dale; Kahane, Philippe; Nobili, Lino; Provini, Federica; Scheffer, Ingrid E ; Tassi, Laura; Vignatelli, Luca; Bassetti, Claudio; Cirignotta, Fabio; Derry, Christopher; Gambardella, Antonio; Guerrini, Renzo; Halasz, Peter; Licchetta, Laura; Mahowald, Mark; Manni, Raffaele; Marini, Carla; Mostacci, Barbara; Naldi, Ilaria; Parrino, Liborio; Picard, Fabienne; Pugliatti, Maura; Ryvlin, Philippe; Vigevano, Federico; Zucconi, Marco; Berkovic, Samuel F ; Ottman, Ruth |
| 8 | Apr-2016 | Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy | Bagnall, Richard D; Crompton, Douglas E; Petrovski, Slavé; Lam, Lien; Cutmore, Carina; Garry, Sarah I; Sadleir, Lynette G; Dibbens, Leanne M; Cairns, Anita; Kivity, Sara; Afawi, Zaid; Regan, Brigid M; Duflou, Johan; Berkovic, Samuel F ; Scheffer, Ingrid E ; Semsarian, Christopher |
| 9 | 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 |
| 10 | Apr-2016 | Interictal spikes and epileptic seizures: their relationship and underlying rhythmicity | Karoly, Philippa J; Freestone, Dean R; Boston, Ray; Grayden, David B; Himes, David; Leyde, Kent; Seneviratne, Udaya; Berkovic, Samuel F ; O’Brien, Terence; Cook, Mark J |
| 11 | Mar-2016 | Human focal seizures are characterized by populations of fixed duration and interval | Cook, Mark J; Karoly, Philippa J; Freestone, Dean R; Himes, David; Leyde, Kent; Berkovic, Samuel F ; O'Brien, Terence; Grayden, David B; Boston, Ray |
| 12 | 23-Feb-2016 | Multiplex families with epilepsy: Success of clinical and molecular genetic characterization | Afawi, Zaid; Oliver, Karen L; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y; Helbig, Katherine L; Goldberg-Stern, Hadassa; Misk, Adel J; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H; Mangelsdorf, Marie; MacPherson, James N; Carvill, Gemma L; Mefford, Heather C; Jackson, Graeme D ; Scheffer, Ingrid E ; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E; Corbett, Mark A; Mulley, John C; Dibbens, Leanne M; Korczyn, Amos D; Berkovic, Samuel F |
| 13 | Jan-2016 | Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. | Ricos, Michael G; Hodgson, Bree L; Pippucci, Tommaso; Saidin, Akzam; Ong, Yeh Sze; Heron, Sarah E; Licchetta, Laura; Bisulli, Francesca; Bayly, Marta A; Hughes, James; Baldassari, Sara; Palombo, Flavia; Santucci, Margherita; Meletti, Stefano; Berkovic, Samuel F ; Rubboli, Guido; Thomas, Paul Q; Scheffer, Ingrid E ; Tinuper, Paolo; Geoghegan, Joel; Schreiber, Andreas W; Dibbens, Leanne M |
| 14 | 9-Dec-2015 | Loss of synaptic Zn2+ transporter function increases risk of febrile seizures | Hildebrand, Michael S ; Phillips, A Marie; Mullen, Saul A ; Adlard, Paul A; Hardies, Katia; Damiano, John A; Wimmer, Verena; Bellows, Susannah T; McMahon, Jacinta M; Burgess, Rosemary; Hendrickx, Rik; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Scheffer, Ingrid E ; Petrou, Steven; Berkovic, Samuel F ; Reid, Christopher A |
| 15 | 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 |
| 16 | Oct-2015 | A novel mutation af CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy | Licchetta, Laura; Bisulli, Francesca; Fietz, M; Valentino, ML; Morbin, Michela; Mostacci, B; Oliver, Karen L; Berkovic, Samuel F ; Tinuper, Paolo |
| 17 | 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 |
| 18 | 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 |
| 19 | 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 |
| 20 | 4-Mar-2015 | Cortical microarchitecture changes in genetic epilepsy. | Wimmer, Verena C; Li, Melody Y-S; Berkovic, Samuel F ; Petrou, Steven |
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