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Showing 1 - 12 of 41 results
Publication

Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.

M. Scott Perry, Andreas Brunklaus, Anup D. Patel, Benit Maru, Colin M. Roberts, Deborah Holder, Dennis Dlugos, Dennis Lal, Elaine Wirrell, Emma James, Eric Segal, Ingrid E. Scheffer, Jacqueline S. Gofshteyn, James W. Wheless, Joseph Sullivan, Kelly G. Knupp, Linda Laux, Magda Morton, Maria Candida Vila, Mary Wojnaroski, Matt Lallas, Norman Huang, Patricia Smeyers, Penrose O'Donnell, Salvador Rico, Sameer Zuberi, Steven Phillips, Susana Boronat, Tobias Brünger

Publication

Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial.

Joseph Sullivan, Anupam Agarwal, Arnold R. Gammaitoni, Berten Ceulemans, Bradley S. Galer, Dinesh Talwar, Gail M. Farfel, Ingrid E. Scheffer, J. Helen Cross, Kelly G. Knupp, Lieven Lagae, Linda Laux, Marina Nikanorova, Michael Lock, Orrin Devinsky, Renzo Guerrini, Rima Nabbout, Tilman Polster

Publication

Dravet syndrome: A quick transition guide for the adult neurologist.

Danielle M. Andrade, Anne T. Berg, Elaine Wirrell, Ian Miller, Ingrid E. Scheffer, Joseph Sullivan, Kelly G. Knupp, Linda Laux, M. Scott Perry, Mary Anne Meskis, Nicole Villas, Sookyong Koh, Veronica Hood

Publication

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Egidio Spinelli, Alicia Guemez-Gamboa, Alison M. Muir, Amy Schneider, Angus C. Nairn, Annalisa Vetro, Berkley Schmidt, Carmen Barba, Christelle M. El Achkar, Elizabeth R. Roeder, Elysa J. Marco, Emily Bryant, Eva H. Brilstra, Gemma L. Carvill, Hadassa Goldberg-Stern, Heather C. Mefford, Ingrid E. Scheffer, Jennifer Rakotomamonjy, Jessica Giannelli, John J. Millichap, Kazuhiro Iwama, Kirsty McWalter, Kyle R. Christensen, Lance H. Rodan, Linda Laux, Naomichi Matsumoto, P. Ian Andrews, Patrick W. Carney, Rebecca O. Littlejohn, Renzo Guerrini, Richard H. van Jaarsveld, Sam Berkovic, Satoko Kumada, Simone Mandelstam, Tiziana Pisano, William G. Wilson

Publication

Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.

Dina Simkin, Alfred L George, Bernabe I Bustos, Brandon N Piyevsky, Carlos G Vanoye, Evangelos Kiskinis, Gabriella L Robertson, John J Millichap, Juan A Ortega, Kelly A Marshall, Linda C Laux, Marc Forrest, Peter Penzes, Reshma R Desai, Steven J Lubbe

Publication

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Hui Guo, Ahood Alsulaiman, Alexia Boizot, Amber Begtrup, Anne chun-hui Tsai, Audrey Labalme, Bin Yu, Bradley Schaefer, Brigitte Gilbert-Dussardier, Brina Daniels, Chao Chen, Charlotte Brasch-Andersen, Christina R. Fagerberg, Danielle Karlowicz, Dhamidhu Eratne, Elena Savva, Elizabeth A. Sellars, Emily Bryant, Evan E. Eichler, Federico Santoni, Fowzan S. Alkuraya, Frédéric Bilan, Gaetan Lesca, Guodong Chen, Hilde Peeters, Huidan Wu, Inge-Lore Ruiz-Arana, Ingrid M. Wentzensen, Inken Dreyer, Jenny Meylan Merlini, Jianjun Ou, Jieqiong Tan, Kendra Hoekzema, Kun Xia, Linda Laux, Linda Pons, Lindsay Rhodes, Lori A. Carpenter, Lucia Bartoloni, Lucile Letienne-Cejudo, Maria J. Guillen Sacoto, Marie McDonald, Mohammad A. Al-Muhaizea, Natasha J. Brown, Qian Pan, Qiumeng Zhang, Raphael A. Bernier, Rebecca Hernan, Rhonda E. Schnur, Rose B. McGee, Rujia Dai, Samantha Ayres, Senwei Tan, Sumit Punj, Valerie Slegesky, Wendy K. Chung, Xiangbin Jia, Zhengmao Hu

Publication

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.

Rima Nabbout, Antonio Gil-Nagel, Anupam Agarwal, Arun Mistry, Bradley S. Galer, Catherine Chiron, Elaine Wirrell, Gail Farfel, Glenn Morrison, Kelly Knupp, Linda Laux, Michael Lock, Nathalie Villeneuve, Rocio Sanchez-Carpintero, Sameer Zuberi, Stéphane Auvin, Ulrich Stephani