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| | Publication Year | Title | Author(s) |
| 121 | 2021 | Defining Dravet syndrome: An essential pre-requisite for precision medicine trials. | Li, Wenhui; Schneider, Amy L ; Scheffer, Ingrid E |
| 122 | Dec-2020 | Protocol for a single patient therapy plan: A randomised, double-blind, placebo-controlled N-of-1 trial to assess the efficacy of cannabidiol in patients with intractable epilepsy. | Ong, Katherine S; Carlin, John B; Fahey, Michael; Freeman, Jeremy L; Scheffer, Ingrid E ; Gillam, Lynn; Anderson, Monique; Huque, Md Hamidul; Legge, Donna; Dirnbauer, Nicole; Lilley, Brian; Slota-Kan, Simon; Cranswick, Noel |
| 123 | 24-Nov-2020 | Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study. | Balestrini, Simona; Mikati, Mohamad A; Álvarez-García-Rovés, Reyes; Carboni, Michael; Hunanyan, Arsen S; Kherallah, Bassil; McLean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Peleteiro, Leticia; Brashear, Allison; Miller, Charlotte; Samões, Raquel; Brankovic, Vesna; Padiath, Quasar S; Potic, Ana; Pilch, Jacek; Vezyroglou, Aikaterini; Bye, Ann M E; Davis, Andrew M; Ryan, Monique M; Semsarian, Christopher; Hollingsworth, Georgina; Scheffer, Ingrid E ; Granata, Tiziana; Nardocci, Nardo; Ragona, Francesca; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Carrilho, Inês; Zucca, Claudio; Novy, Jan; Dzieżyc, Karolina; Parowicz, Marek; Mazurkiewicz-Bełdzińska, Maria; Weckhuysen, Sarah; Pons, Roser; Groppa, Sergiu; Sinden, Daniel S; Pitt, Geoffrey S; Tinker, Andrew; Ashworth, Michael; Michalak, Zuzanna; Thom, Maria; Cross, J Helen; Vavassori, Rosaria; Kaski, Juan P; Sisodiya, Sanjay M |
| 124 | Nov-2020 | Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. | Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy ; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G; Breuillard, Delphine; Levy, Raphael; Rio, Marlène; Dupont, Sophie; Negrin, Susanna; Danieli, Alberto; Scalais, Emmanuel; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Poisson, Alice; Lebre, Anne-Sophie; Nica, Anca; Odent, Sylvie; Sekhara, Tayeb; Brankovic, Vesna; Goldenberg, Alice; Vrielynck, Pascal; Lederer, Damien; Maurey, Hélène; Terrone, Gaetano; Besmond, Claude; Hubert, Laurence; Berquin, Patrick; Billette de Villemeur, Thierry; Isidor, Bertrand; Freeman, Jeremy L; Mefford, Heather C; Myers, Candace T; Howell, Katherine B; Rodríguez-Sacristán Cascajo, Andrés; Meyer, Pierre; Genevieve, David; Guët, Agnès; Doummar, Diane; Durigneux, Julien; van Dooren, Marieke F; de Wit, Marie Claire Y; Gerard, Marion; Marey, Isabelle; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E ; Kabashi, Edor; Nabbout, Rima |
| 125 | Nov-2020 | Fenfluramine HCl (Fintepla® ) provides long-term clinically meaningful reduction in seizure frequency: Analysis of an ongoing open-label extension study. | Sullivan, Joseph; Scheffer, Ingrid E ; Lagae, Lieven; Nabbout, Rima; Pringsheim, Milka; Talwar, Dinesh; Polster, Tilman; Galer, Bradley; Lock, Michael; Agarwal, Anupam; Gammaitoni, Arnold; Morrison, Glenn; Farfel, Gail |
| 126 | Nov-2020 | Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. | Ng, Bobby G; Eklund, Erik A; Shiryaev, Sergey A; Dong, Yin Y; Abbott, Mary-Alice; Asteggiano, Carla; Bamshad, Michael J; Barr, Eileen; Bernstein, Jonathan A; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K; Ciliberto, Michael A; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S; Hoganson, George E; Houck, Kimberly M; Kohler, Jennefer N; Morava, Eva; Larson, Austin A; Liu, Pengfei; Madathil, Sujana; McCormack, Colleen; Meeks, Naomi J L; Miller, Rebecca; Monaghan, Kristin G; Nickerson, Deborah A; Palculict, Timothy Blake; Papazoglu, Gabriela Magali; Pletcher, Beth A; Scheffer, Ingrid E ; Schenone, Andrea Beatriz; Schnur, Rhonda E; Si, Yue; Rowe, Leah J; Serrano Russi, Alvaro H; Russo, Rossana Sanchez; Thabet, Farouq; Tuite, Allysa; Villanueva, María Mercedes; Wang, Raymond Y; Webster, Richard I; Wilson, Dorcas; Zalan, Alice; Wolfe, Lynne A; Rosenfeld, Jill A; Rhodes, Lindsay; Freeze, Hudson H |
| 127 | Nov-2020 | Cognitive, behavioral, and social functioning in children and adults with Dravet syndrome. | Brown, Amy; Arpone, Marta; Schneider, Amy L ; Micallef, Silvana ; Anderson, Vicki A; Scheffer, Ingrid E |
| 128 | Nov-2020 | Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery? | Vezyroglou, Aikaterini; Varadkar, Sophia; Bast, Thomas; Hirsch, Edouard; Strobl, Karl; Harvey, A Simon; Scheffer, Ingrid E ; Sisodiya, Sanjay M; Cross, J Helen |
| 129 | 27-Oct-2020 | Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype. | Trevis, Krysta J; Brown, Natasha J; Green, Cherie C; Lockhart, Paul J; Desai, Tarishi; Vick, Tanya; Anderson, Vicki; Pua, Emmanuel P K; Bahlo, Melanie; Delatycki, Martin B ; Scheffer, Ingrid E ; Wilson, Sarah J |
| 130 | 21-Oct-2020 | Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. | Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P; Gillentine, Madelyn A; Wilfert, Amy B; Perez-Jurado, Luis A; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K; Rosenfeld, Jill A; Geisheker, Madeleine R; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J V; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin B ; Lockhart, Paul J; Manning, Melanie A; Liu, Pengfei; Scheffer, Ingrid E ; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G; Santen, Gijs W E; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J; Pierce, Karen; Courchesne, Eric; Kooy, R Frank; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A; Gecz, Jozef; Xia, Kun; Eichler, Evan E |
| 131 | 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 |
| 132 | 1-Oct-2020 | Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. | Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P; Gillentine, Madelyn A; Wilfert, Amy B; Perez-Jurado, Luis A; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K; Rosenfeld, Jill A; Geisheker, Madeleine R; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J V; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin B ; Lockhart, Paul J; Manning, Melanie A; Liu, Pengfei; Scheffer, Ingrid E ; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G; Santen, Gijs W E; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J; Pierce, Karen; Courchesne, Eric; Kooy, R Frank; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A; Gecz, Jozef; Xia, Kun; Eichler, Evan E |
| 133 | 29-Sep-2020 | Genetic Contributions to Acquired Epilepsies. | Perucca, Piero ; Scheffer, Ingrid E |
| 134 | 10-Sep-2020 | Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study. | Balestrini, Simona; Mikati, Mohamad A; Garcia-Roves, Reyes Alvarez; Carboni, Michael; Hunanyan, Arsen S; Kherallah, Bassil; McLean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Peleteiro, Leticia; Brashear, Allison; Miller, Charlotte; Samoes, Raquel; Brankovic, Vesna; Padiath, Quasar S; Potic, Ana; Pilch, Jacek; Vezyroglou, Katharina; Bye, Ann M E; Davis, Andrew M; Ryan, Monique M; Semsarian, Christopher; Hollingsworth, Georgina; Scheffer, Ingrid E ; Granata, Tiziana; Nardocci, Nardo; Ragona, Francesca; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Carrilho, Ines; Zucca, Claudio; Novy, Jan; Dzieżyc, Karolina; Parowicz, Marek; Mazurkiewicz-Bełdzińska, Maria; Weckhuysen, Sarah; Pons, Roser; Groppa, Sergiu; Sinden, Daniel S; Pitt, Geoffrey S; Tinker, Andrew; Ashworth, Michael; Michalak, Zuzanna; Thom, Maria; Cross, J Helen; Vavassori, Rosaria; Kaski, Juan P; Sisodiya, Sanjay M |
| 135 | 8-Sep-2020 | Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy? | Bleakley, Lauren E; Soh, Ming S; Bagnall, Richard D; Sadleir, Lynette G; Gooley, Samuel; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A |
| 136 | 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 |
| 137 | Sep-2020 | Parental health spillover effects of paediatric rare genetic conditions. | Wu, You; Al-Janabi, Hareth; Mallett, Andrew; Quinlan, Catherine; Scheffer, Ingrid E ; Howell, Katherine B; Christodoulou, John; Leventer, Richard J; Lockhart, Paul J; Stark, Zornitza; Boughtwood, Tiffany; Goranitis, Ilias |
| 138 | 28-Aug-2020 | PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum. | Kolc, Kristy L; Møller, Rikke S; Sadleir, Lynette G; Scheffer, Ingrid E ; Kumar, Raman; Gecz, Jozef |
| 139 | Aug-2020 | Neuronal Ceroid Lipofuscinosis type 2: an Australian case series. | Johnson, Alexandra M; Mandelstam, Simone; Andrews, Ian; Boysen, Katja; Yaplito-Lee, Joy; Fietz, Michael; Nagarajan, Lakshmi; Rodriguez-Casero, Victoria; Ryan, Monique M; Smith, Nicholas; Scheffer, Ingrid E ; Ellaway, Carolyn |
| 140 | 26-Jul-2020 | Defining the phenotype of FHF1 developmental and epileptic encephalopathy. | Trivisano, Marina; Ferretti, Alessandro; Bebin, Elizabeth; Huh, Linda; Lesca, Gaetan; Siekierska, Aleksandra; Takeguchi, Ryo; Carneiro, Maryline; De Palma, Luca; Guella, Ilaria; Haginoya, Kazuhiro; Shi, Ruo Ming; Kikuchi, Atsuo; Kobayashi, Tomoko; Jung, Julien; Lagae, Lieven; Milh, Mathieu; Mathieu, Marie L; Minassian, Berge A; Novelli, Antonio; Pietrafusa, Nicola; Takeshita, Eri; Tartaglia, Marco; Terracciano, Alessandra; Thompson, Michelle L; Cooper, Gregory M; Vigevano, Federico; Villard, Laurent; Villeneuve, Nathalie; Buyse, Gunnar M; Demos, Michelle; Scheffer, Ingrid E ; Specchio, Nicola |
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0000-0002-2311-2174