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Publication YearTitleAuthor(s)
129-Jul-2022Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.Gozzelino, Luca; Kochlamazashvili, Gaga; Baldassari, Sara; Mackintosh, Albert Ian; Licchetta, Laura; Iovino, Emanuela; Liu, Yu Chi; Bennett, Caitlin A; Bennett, Mark F ; Damiano, John A; Zsurka, Gábor; Marconi, Caterina; Giangregorio, Tania; Magini, Pamela; Kuijpers, Marijn; Maritzen, Tanja; Norata, Giuseppe Danilo; Baulac, Stéphanie; Canafoglia, Laura; Seri, Marco; Tinuper, Paolo; Scheffer, Ingrid E ; Bahlo, Melanie; Berkovic, Samuel F ; Hildebrand, Michael S ; Kunz, Wolfram S; Giordano, Lucio; Bisulli, Francesca; Martini, Miriam; Haucke, Volker; Hirsch, Emilio; Pippucci, Tommaso
221-Jul-2022Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.Green, Timothy E; Motelow, Joshua E; Bennett, Mark F ; Ye, Zimeng; Bennett, Caitlin A; Griffin, Nicole G; Damiano, John A; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Lockhart, Paul J; Sadleir, Lynette G; Boys, Amber; Scheffer, Ingrid E ; Major, Heather; Darbro, Benjamin W; Bahlo, Melanie; Goldstein, David B; Kerrigan, John F; Heinzen, Erin L; Berkovic, Samuel F ; Hildebrand, Michael S 
3Jul-2022Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.Oliver, Karen L; Ellis, Colin A; Scheffer, Ingrid E ; Ganesan, Shiva; Leu, Costin; Sadleir, Lynette G; Heinzen, Erin L; Mefford, Heather C; Bass, Andrew J; Curtis, Sarah W; Harris, Rebekah V; Whiteman, David C; Helbig, Ingo; Ottman, Ruth; Epstein, Michael P; Bahlo, Melanie; Berkovic, Samuel F 
418-Jun-2022Precision medicine for genetic epilepsy on the horizon: recent advances, present challenges and suggestions for continued progress.Knowles, Juliet K; Helbig, Ingo; Metcalf, Cameron S; Lubbers, Laura S; Isom, Lori L; Demarest, Scott; Goldberg, Ethan; George, Alfred L; Lerche, Holger; Weckhuysen, Sarah; Whittemore, Vicky; Berkovic, Samuel F ; Lowenstein, Daniel H
5Jun-2022A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.Campbell, Ciarán; McCormack, Mark; Patel, Sonn; Stapleton, Caragh; Bobbili, Dheeraj; Krause, Roland; Depondt, Chantal; Sills, Graeme J; Koeleman, Bobby P; Striano, Pasquale; Zara, Federico; Sander, Josemir W; Lerche, Holger; Kunz, Wolfram S; Stefansson, Kari; Stefansson, Hreinn; Doherty, Colin P; Heinzen, Erin L; Scheffer, Ingrid E ; Goldstein, David B; O'Brien, Terence; Cotter, David; Berkovic, Samuel F ; Sisodiya, Sanjay M; Delanty, Norman; Cavalleri, Gianpiero L
6Jun-2022Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death.Soh, Ming S; Bagnall, Richard D; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A
730-May-2022Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.Berecki, Géza; Howell, Katherine B; Heighway, Jacqueline; Olivier, Nelson; Rodda, Jill; Overmars, Isabella; Vlaskamp, Danique R M; Ware, Tyson L; Ardern-Holmes, Simone; Lesca, Gaetan; Alber, Michael; Veggiotti, Pierangelo; Scheffer, Ingrid E ; Berkovic, Samuel F ; Wolff, Markus; Petrou, Steven
86-May-2022Genetic factors and shared environment contribute equally to objective singing ability.Yeom, Daniel; Tan, Yi Ting; Haslam, Nick; Mosing, Miriam A; Yap, Valerie M Z; Fraser, Trisnasari; Hildebrand, Michael S ; Berkovic, Samuel F ; McPherson, Gary E; Peretz, Isabelle; Wilson, Sarah J
929-Apr-2022UNC13B and focal epilepsy.Green, Timothy E; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S 
1018-Apr-2022Genome-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