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| | Publication Year | Title | Author(s) |
| 101 | 21-Apr-2021 | Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. | Mole, Sara E; Schulz, Angela; Badoe, Eben; Berkovic, Samuel F ; de Los Reyes, Emily C; Dulz, Simon; Gissen, Paul; Guelbert, Norberto; Lourenco, Charles M; Mason, Heather L; Mink, Jonathan W; Murphy, Noreen; Nickel, Miriam; Olaya, Joffre E; Scarpa, Maurizio; Scheffer, Ingrid E ; Simonati, Alessandro; Specchio, Nicola; Von Löbbecke, Ina; Wang, Raymond Y; Williams, Ruth E |
| 102 | 5-Apr-2021 | Speech, Language and Oromotor Skills in Patients with Polymicrogyria. | Braden MSpPath, Ruth O; Boyce, Jessica O; Stutterd, Chloe A ; Pope, Kate; Goel, Himanshu; Leventer, Richard J; Scheffer, Ingrid E ; Morgan, Angela T |
| 103 | 1-Apr-2021 | Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. | Courage, Carolina; Oliver, Karen L; Park, Eon Joo; Cameron, Jillian M ; Grabińska, Kariona A; Muona, Mikko; Canafoglia, Laura; Gambardella, Antonio; Said, Edith; Afawi, Zaid; Baykan, Betul; Brandt, Christian; di Bonaventura, Carlo; Chew, Hui Bein; Criscuolo, Chiara; Dibbens, Leanne M; Castellotti, Barbara; Riguzzi, Patrizia; Labate, Angelo; Filla, Alessandro; Giallonardo, Anna T; Berecki, Geza; Jackson, Christopher B; Joensuu, Tarja; Damiano, John A; Kivity, Sara; Korczyn, Amos; Palotie, Aarno; Striano, Pasquale; Uccellini, Davide; Giuliano, Loretta; Andermann, Eva; Scheffer, Ingrid E ; Michelucci, Roberto; Bahlo, Melanie; Franceschetti, Silvana; Sessa, William C; Berkovic, Samuel F ; Lehesjoki, Anna-Elina |
| 104 | Apr-2021 | Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. | Myers, Kenneth A; Marini, Carla; Carvill, Gemma L; McTague, Amy; Panetta, Julie; Stutterd, Chloe A ; Stanley, Thorsten; Marin, Samantha; Nguyen, John; Barba, Carmen; Rosati, Anna; Scott, Richard H; Mefford, Heather C; Guerrini, Renzo; Scheffer, Ingrid E |
| 105 | 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 |
| 106 | 1-Feb-2021 | The aetiologies of epilepsy. | Balestrini, Simona; Arzimanoglou, Alexis; Blümcke, Ingmar; Scheffer, Ingrid E ; Wiebe, Samuel; Zelano, Johan; Walker, Matthew C |
| 107 | Feb-2021 | The severe epilepsy syndromes of infancy: A population-based study. | Howell, Katherine B; Freeman, Jeremy L; Mackay, Mark T; Fahey, Michael C; Archer, John S ; Berkovic, Samuel F ; Chan, Eunice; Dabscheck, Gabriel; Eggers, Stefanie; Hayman, Michael; Holberton, James; Hunt, Rodney W; Jacobs, Susan E; Kornberg, Andrew J; Leventer, Richard J; Mandelstam, Simone; McMahon, Jacinta M; Mefford, Heather C; Panetta, Julie; Riseley, Jessica; Rodriguez-Casero, Victoria; Ryan, Monique M; Schneider, Amy L ; Smith, Lindsay J; Stark, Zornitza; Wong, Flora; Yiu, Eppie M; Scheffer, Ingrid E ; Harvey, A Simon |
| 108 | Feb-2021 | NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. | Stamberger, Hannah; Hammer, Trine B; Gardella, Elena; Vlaskamp, Danique R M; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T; Fenger, Christina; Afawi, Zaid; Almanza Fuerte, Edith P; Andrade, Danielle M; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F ; Berkovic, Samuel F ; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Øyvind L; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R; Hildebrand, Michael S ; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W; Koeleman, Bobby P C; Koolen, David A; Korff, Christian; Küry, Sébastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J; Mackay, Mark T; Macke, Erica L; McEntagart, Meriel; Mohammad, Shekeeb S; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G; Sadoway, Tara; Schelhaas, Helenius J; Schneider, Amy L ; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M; Smol, Thomas; Stumpel, Connie T R M; Stuurman, Kyra; Symonds, Joseph D; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A; Zerem, Ayelet; Zuberi, Sameer M; Guerrini, Renzo; Mefford, Heather C; Patel, Chirag; Zhang, Yue-Hua; Møller, Rikke S; Scheffer, Ingrid E |
| 109 | 21-Jan-2021 | Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. | Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A; McQuillan, Lara ; Harvey, Anthony Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy L ; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J; Dobrovic, Alexander ; Scheffer, Ingrid E ; Bahlo, Melanie; Leventer, Richard J; Lister, Ryan; Berkovic, Samuel F ; Hildebrand, Michael S |
| 110 | 7-Jan-2021 | The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. | Datta, Alexandre N; Bahi-Buisson, Nadia; Bienvenu, Thierry; Buerki, Sarah E; Gardiner, Fiona; Cross, J Helen; Heron, Bénédicte; Kaminska, Anna; Korff, Christian M; Lepine, Anne; Lesca, Gaetan; McTague, Amy; Mefford, Heather C; Mignot, Cyrill; Milh, Matthieu; Piton, Amélie; Pressler, Ronit M; Ruf, Susanne; Sadleir, Lynette G; de Saint Martin, Anne; Van Gassen, Koen; Verbeek, Nienke E; Ville, Dorothée; Villeneuve, Nathalie; Zacher, Pia; Scheffer, Ingrid E ; Lemke, Johannes R |
| 111 | Jan-2021 | Transcriptome analysis of a ring chromosome 20 patient cohort. | Myers, Kenneth A; Bennett, Mark F ; Hildebrand, Michael S ; Coleman, Matthew J; Zhou, Geyu; Hollingsworth, Georgie; Cairns, Anita; Riney, Kate; Berkovic, Samuel F ; Bahlo, Melanie; Scheffer, Ingrid E |
| 112 | Jan-2021 | Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants. | Alawadhi, Abdulla; Morgan, Angela T; Mucha, Bettina E; Scheffer, Ingrid E ; Myers, Kenneth A |
| 113 | Jan-2021 | FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. | Schneider, Amy L ; Myers, Candace T; Muir, Alison M; Calvert, Sophie; Basinger, Alice; Perry, M Scott; Rodan, Lance; Helbig, Katherine L; Chambers, Chelsea; Gorman, Kathleen M; King, Mary D; Donkervoort, Sandra; Soldatos, Ariane; Bönnemann, Carsten G; Spataro, Nino; Gabau, Elisabeth; Arellano, Montserrat; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rossignol, Elsa; Hamdan, Fadi F; Michaud, Jacques L; Balak, Christopher; Mefford, Heather C; Scheffer, Ingrid E |
| 114 | 2021 | Contribution of rare genetic variants to drug response in absence epilepsy. | Myers, Kenneth A; Bennett, Mark F ; Grinton, Bronwyn E; Dabscheck, Gabriel; Chan, Eunice K; Bello-Espinosa, Luis E; Sadleir, Lynette G; D'Alfonso, Sabrina; Schneider, Amy L ; Damiano, John A; Hildebrand, Michael S ; Bahlo, Melanie; Berkovic, Samuel F ; Buchhalter, Jeffrey; Scheffer, Ingrid E |
| 115 | 2021 | Cutting Edge Approaches to Detecting Brain Mosaicism Associated with Common Focal Epilepsies: Implications for Diagnosis and Potential therapies. | Ye, Zimeng; Bennett, Mark F ; Bahlo, Melanie; Scheffer, Ingrid E ; Berkovic, Samuel F ; Perucca, Piero ; Hildebrand, Michael S |
| 116 | 2021 | Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. | Carvill, Gemma L; Jansen, Sandra; Lacroix, Amy; Zemel, Matthew; Mehaffey, Michele; De Vries, Petra; Brunner, Han G; Scheffer, Ingrid E ; De Vries, Bert B A; Vissers, Lisenka E L M; Mefford, Heather C |
| 117 | 2021 | Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing. | Ye, Zimeng; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 118 | 2021 | Defining Dravet syndrome: An essential pre-requisite for precision medicine trials. | Li, Wenhui; Schneider, Amy L ; Scheffer, Ingrid E |
| 119 | 2021 | Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies. | Palmer, Elizabeth E; Howell, Katherine; Scheffer, Ingrid E |
| 120 | 2021 | Seizures in Sotos syndrome: Phenotyping in 49 patients. | Fortin, Olivier; Vincelette, Christian; Khan, Afsheen Q; Berrahmoune, Saoussen; Dassi, Christelle; Karimi, Mitra; Scheffer, Ingrid E ; Lu, Jun; Davis, Kellie; Myers, Kenneth A |
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0000-0002-2311-2174