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Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study SCN1A Dravet综合征幼儿的认知停滞和执行功能缺陷: ENVISION自然史研究中的发病，进展和影响的详细特征 Sullivan, Joseph; Perry, M. Scott; Scheffer, Ingrid E.; Wheless, James; Boronat, Susana; Brunklaus, Andreas; Laux, Linda; Patel, Anup D.; Roberts, Colin; Dlugos, Dennis; Holder, Deborah; Knupp, Kelly; Lallas, Matt; Phillips, Steven; Segal, Eric; Lal, Dennis; Wirrell, Elaine; Zuberi, Sameer; Gioia, Gerard; Shaffer, Rebecca; Berl, Madison M.; Wojnaroski, Mary; Christensen, Sarah; King, Alexander; James, Emma S.; Vila, Maria Candida; Huang, Norman; Gofshteyn, Jacqueline S.; Rico, Salvador 分享 收藏
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Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action Elvidge, Kristina L.; Farrar, Michelle A.; Christodoulou, John; Kava, Maina P.; Johnson, Alexandra M.; Patterson, Marc C.; Jones, Simon A.; Zuberi, Sameer; Wilmshurst, Jo M.; Smith, Nicholas J. C. 分享 收藏
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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia Symonds, Joseph D.; Park, Kristen L.; Mignot, Cyril; Macleod, Stewart; Armstrong, Martin; Ashrafian, Houman; Bernard, Genevieve; Brown, Kathleen; Brunklaus, Andreas; Callaghan, Mary; Classen, Georg; Cohen, Julie S.; Cutcutache, Ioana; Agathe, Jean-Madeleine de Sainte; Dyment, David; Elliot, Katherine S.; Isapof, Arnaud; Joss, Shelagh; Keren, Boris; Marble, Michael; McTague, Amy; Osmond, Matthew; Page, Matthew; Planes, Marc; Platzer, Konrad; Redon, Sylvia; Reese, James; Saenz, Margarita; Smith-Hicks, Constance; Stobo, Daniel; Stockhaus, Christian; Vuillaume, Marie-Laure; Wolf, Nicole I.; Wakeling, Emma L.; Yoon, Grace; Knight, Julian C.; Zuberi, Sameer M. 分享 收藏
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Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS) Viswanathan, Sindhu; Oliver, Karen L.; Regan, Brigid M.; Schneider, Amy L.; Myers, Candace T.; Mehaffey, Michele G.; LaCroix, Amy J.; Antony, Jayne; Webster, Richard; Cardamone, Michael; Subramanian, Gopinath M.; Chiu, Annie T. G.; Roza, Eugenia; Teleanu, Raluca I.; Malone, Stephen; Leventer, Richard J.; Gill, Deepak; Berkovic, Samuel F.; Hildebrand, Michael S.; Goad, Beatrice S.; Howell, Katherine B.; Symonds, Joseph D.; Brunklaus, Andreas; Sadleir, Lynette G.; Zuberi, Sameer M.; Mefford, Heather C.; Scheffer, Ingrid E. 分享 收藏
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Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies 1018例SCN1A-related癫痫患者的基因型-表型关联 Gallagher, Declan; Perez-Palma, Eduardo; Bruenger, Tobias; Ghanty, Ismael; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Moller, Rikke S.; Nabbout, Rima; Regan, Brigid M.; Schneider, Amy L.; Scheffer, Ingrid E.; Schoonjans, An-Sofie; Symonds, Joseph D.; Weckhuysen, Sarah; Zuberi, Sameer M.; Lal, Dennis; Brunklaus, Andreas 分享 收藏
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Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study Perry, M. Scott; Scheffer, Ingrid E.; Sullivan, Joseph; Brunklaus, Andreas; Boronat, Susana; Wheless, James W.; Laux, Linda; Patel, Anup D.; Roberts, Colin M.; Dlugos, Dennis; Holder, Deborah; Knupp, Kelly G.; Lallas, Matt; Phillips, Steven; Segal, Eric; Smeyers, Patricia; Lal, Dennis; Wirrell, Elaine; Zuberi, Sameer; Bruenger, Tobias; Wojnaroski, Mary; Maru, Benit; O'Donnell, Penrose; Morton, Magda; James, Emma; Vila, Maria Candida; Huang, Norman; Gofshteyn, Jacqueline S.; Rico, Salvador 分享 收藏
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Global synergistic actions to improve brain health for human development 改善大脑健康促进人类发展的全球协同行动 Owolabi, Mayowa O.; Leonardi, Matilde; Bassetti, Claudio; Jaarsma, Joke; Hawrot, Tadeusz; Makanjuola, Akintomiwa I.; Dhamija, Rajinder K.; Feng, Wuwei; Straub, Volker; Camaradou, Jennifer; Dodick, David W.; Sunna, Rosita; Menon, Bindu; Wright, Claire; Lynch, Chris; Chadha, Antonella Santuccione; Ferretti, Maria Teresa; De, Anna; Catsman-Berrevoets, Coriene E.; Gichu, Muthoni; Tassorelli, Cristina; Oliver, David; Paulus, Walter; Mohammed, Ramla K.; Charway-Felli, Augustina; Rostasy, Kevin; Feigin, Valery; Craven, Audrey; Cunningham, Elizabeth; Galvin, Orla; Perry, Alexandra Heumber; Fink, Ericka L.; Baneke, Peer; Helme, Anne; Laurson-Doube, Joanna; Medina, Marco T.; Roa, Juan David; Hogl, Birgit; O'Bryan, Allan; Trenkwalder, Claudia; Wilmshurst, Jo; Akinyemi, Rufus O.; Yaria, Joseph O.; Good, David C.; Hoemberg, Volker; Boon, Paul; Wiebe, Samuel; Cross, J. Helen; Haas, Magali; Jabalpurwala, Inez; Mojasevic, Marijeta; DiLuca, Monica; Barbarino, Paola; Clarke, Stephanie; Zuberi, Sameer M.; Olowoyo, Paul; Owolabi, Ayomide; Oyesiku, Nelson; Maly-Sundgren, Pia C.; Norrving, Bo; Soekadar, Surjo R.; van Doorn, Pieter A.; Lewis, Richard; Solomon, Tom; Servadei, Franco 分享 收藏
Impact of Fenfluramine on Drop Seizure Frequency in Adults or Dose-Capped Patients With Lennox-Gastaut Syndrome: Comparative Analysis of Clinical Trial Data Knupp, Kelly G.; Scheffer, Ingrid E.; Ceulemans, Berten; Sullivan, Joseph; Nickels, Katherine C.; Lagae, Lieven; Guerrini, Renzo; Zuberi, Sameer M.; Nabbout, Rima; Riney, Kate; Polega, Shikha; Lothe, Amelie; Davis, Ronald; Gil-Nagel, Antonio 分享 收藏
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