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| | Publication Year | Title | Author(s) |
| 21 | Oct-2022 | Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies. | Krüger, Johanna; Schubert, Julian; Kegele, Josua; Labalme, Audrey; Mao, Miaomiao; Heighway, Jacqueline; Seebohm, Guiscard; Yan, Pu; Koko, Mahmoud; Aslan-Kara, Kezban; Caglayan, Hande; Steinhoff, Bernhard J; Weber, Yvonne G; Keo-Kosal, Pascale; Berkovic, Samuel F ; Hildebrand, Michael S ; Petrou, Steven; Krause, Roland; May, Patrick; Lesca, Gaetan; Maljevic, Snezana; Lerche, Holger |
| 2 | 11-Aug-2022 | A companion to the preclinical common data elements for genomics, transcriptomics and epigenomics data in rodent epilepsy models. A Report of the TASK3-WG4 Omics Working Group of the ILAE/AES Joint Translational Task Force. | van Vliet, Erwin A; Hildebrand, Michael S ; Mills, James D; Brennan, Gary P; Eid, Tore; Masino, Susan A; Whittemore, Vicky; Bindila, Laura; Wang, Kevin K; Patel, Manisha; Perucca, Piero ; Reid, Christopher A |
| 3 | 29-Jul-2022 | Defective 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 |
| 4 | 21-Jul-2022 | Sporadic 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 |
| 5 | 6-May-2022 | Genetic 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 |
| 6 | May-2022 | CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature. | Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat-Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye-Duriez, Andrée; Doco-Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W; Heron, Delphine; Hildebrand, Michael S ; Lesca, Gaëtan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A; Morgan, Angela T; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz-Pallares, Nathalie; Tran-Mau-Them, Frederic; Van Kessel, Imke N; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David |
| 7 | 29-Apr-2022 | Atypical development of Broca's area in a large family with inherited stuttering. | Thompson-Lake, Daisy G Y; Scerri, Thomas S; Block, Susan; Turner, Samantha J; Reilly, Sheena; Kefalianos, Elaina; Bonthrone, Alexandra F; Helbig, Ingo; Bahlo, Melanie; Scheffer, Ingrid E ; Hildebrand, Michael S ; Liégeois, Frédérique J; Morgan, Angela T |
| 8 | 29-Apr-2022 | UNC13B and focal epilepsy. | Green, Timothy E; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 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 | 21-Mar-2022 | Self-reported impact of developmental stuttering across the lifespan. | Boyce, Jessica O; Jackson, Victoria E; van Reyk, Olivia; Parker, Richard; Vogel, Adam P; Eising, Else; Horton, Sarah E; Gillespie, Nathan A; Scheffer, Ingrid E ; Amor, David J; Hildebrand, Michael S ; Fisher, Simon E; Martin, Nicholas G; Reilly, Sheena; Bahlo, Melanie; Morgan, Angela T |
| 11 | Mar-2022 | Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome. | Green, Timothy E; Schimmel, Mareike; Schubert, Susanna; Lemke, Johannes R; Bennett, Mark F ; Hildebrand, Michael S ; Berkovic, Samuel F |
| 12 | 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 |
| 13 | 2022 | Infantile-onset Myoclonic Developmental and Epileptic Encephalopathy: a new RARS2 phenotype. | de Valles-Ibáñez, Guillem; Hildebrand, Michael S ; Bahlo, Melanie; King, Chontelle; Coleman, Matthew; Green, Timothy E; Goldsmith, John; Davis, Suzanne; Gill, Deepak; Mandelstam, Simone; Scheffer, Ingrid E ; Sadleir, Lynette G |
| 14 | 2022 | Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy. | Bennett, Mark F ; Hildebrand, Michael S ; Kayumi, Sayaka; Corbett, Mark A; Gupta, Sachin; Ye, Zimeng; Krivanek, Michael; Burgess, Rosemary; Henry, Olivia J; Damiano, John A; Boys, Amber; Gécz, Jozef; Bahlo, Melanie; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 15 | 2022 | PIGN encephalopathy: Characterizing the epileptology. | Bayat, Allan; de Valles-Ibáñez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick W ; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; des Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S ; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P A; Stumpel, Constance T; Szczepanik, Elzbieta; Terczyńska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E ; Møller, Rikke S; Sadleir, Lynette G |
| 16 | 9-Dec-2021 | Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome. | Green, Timothy E; MacGregor, Duncan; Carden, Susan M; Harris, Rebekah V; Hewitt, Chelsee A; Berkovic, Samuel F ; Penington, Anthony J; Scheffer, Ingrid E ; Hildebrand, Michael S |
| 17 | 29-Sep-2021 | Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome. | Brown, Natasha J; Ye, Zimeng; Stutterd, Chloe A ; Jayasinghe, Sureshni I; Schneider, Amy L ; Mullen, Saul A ; Mandelstam, Simone A; Hildebrand, Michael S |
| 18 | 18-May-2021 | Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP. | Soh, Ming S; Bagnall, Richard D; Bennett, Mark F ; Bleakley, Lauren E; Mohamed Syazwan, Erlina S; Marie Phillips, A; Chiam, Mathew D F; McKenzie, Chaseley E; Hildebrand, Michael S ; Crompton, Douglas; Bahlo, Melanie; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A |
| 19 | 4-May-2021 | Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. | Heron, Sarah E; Regan, Brigid M; Harris, Rebekah V; Gardner, Alison E; Coleman, Matthew J; Bennett, Mark F ; Grinton, Bronwyn E; Helbig, Katherine L; Sperling, Michael R; Haut, Sheryl; Geller, Eric B; Widdess-Walsh, Peter; Pelekanos, James T; Bahlo, Melanie; Petrovski, Slavé; Heinzen, Erin L; Hildebrand, Michael S ; Corbett, Mark A; Scheffer, Ingrid E ; Gécz, Jozef; Berkovic, Samuel F |
| 20 | Mar-2021 | Climate change and epilepsy: Insights from clinical and basic science studies. | Gulcebi, Medine I; Bartolini, Emanuele; Lee, Omay; Lisgaras, Christos Panagiotis; Onat, Filiz; Mifsud, Janet; Striano, Pasquale; Vezzani, Annamaria; Hildebrand, Michael S ; Jimenez-Jimenez, Diego; Junck, Larry; Lewis-Smith, David; Scheffer, Ingrid E ; Thijs, Roland D; Zuberi, Sameer M; Blenkinsop, Stephen; Fowler, Hayley J; Foley, Aideen; Sisodiya, Sanjay M |
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0000-0003-2739-0515