Cannabis, cannabidiol, and epilepsy — From receptors to clinical response von Szaflarski, Jerzy P, Martina Bebin, E

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Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex von Sánchez Fernández, Iván, Yang, Edward, Calvachi, Paola, Amengual-Gual, Marta, Wu, Joyce Y, Krueger, Darcy, Northrup, Hope, Bebin, Martina E, Sahin, Mustafa, Yu, Kun-Hsing, Peters, Jurriaan M

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Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase... von Franz, David Neal, Prof, Belousova, Elena, MD, Sparagana, Steven, MD, Bebin, E Martina, MD, Frost, Michael, MD, Kuperman, Rachel, MD, Witt, Olaf, MD, Kohrman, Michael H, MD, Flamini, J Robert, MD, Wu, Joyce Y, MD, Curatolo, Paolo, Prof, de Vries, Petrus J, Prof, Whittemore, Vicky H, PhD, Thiele, Elizabeth A, MD, Ford, James P, MS, Shah, Gaurav, MD, Cauwel, Helene, MSc, Lebwohl, David, MD, Sahmoud, Tarek, MD, Jozwiak, Sergiusz, MD

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Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study von Franz, David N, Belousova, Elena, Sparagana, Steven, Bebin, E Martina, Frost, Michael D, Kuperman, Rachel, Witt, Olaf, Kohrman, Michael H, Flamini, J Robert, Wu, Joyce Y, Curatolo, Paolo, de Vries, Petrus J, Berkowitz, Noah, Niolat, Julie, Jóźwiak, Sergiusz

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Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons von Tidball, Andrew M, Lopez-Santiago, Luis F, Yuan, Yukun, Glenn, Trevor W, Margolis, Joshua L, Clayton Walker, J, Kilbane, Emma G, Miller, Christopher A, Martina Bebin, E, Scott Perry, M, Isom, Lori L, Parent, Jack M

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Long-term safety and efficacy of highly purified cannabidiol for treatment refractory epilepsy von Gaston, Tyler E., Ampah, Steve B., Martina Bebin, E., Grayson, Leslie P., Cutter, Gary R., Hernando, Kathleen, Szaflarski, Jerzy P.

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Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants von Wu, Joyce Y., MD, Peters, Jurriaan M., MD, PhD, Goyal, Monisha, MD, Krueger, Darcy, MD, PhD, Sahin, Mustafa, MD, PhD, Northrup, Hope, MD, Au, Kit Sing, MD, Cutter, Gary, PhD, Bebin, E. Martina, MD, MPA

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Affiliate stigma and caregiver burden in intractable epilepsy von Hansen, Barbara, Szaflarski, Magdalena, Bebin, E. Martina, Szaflarski, Jerzy P.

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Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants von Davis, Peter E, Filip-Dhima, Rajna, Sideridis, Georgios, Peters, Jurriaan M, Au, Kit Sing, Northrup, Hope, Bebin, E Martina, Wu, Joyce Y, Krueger, Darcy, Sahin, Mustafa

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Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis von Bissler, John J, Nonomura, Norio, Budde, Klemens, Zonnenberg, Bernard A, Fischereder, Michael, Voi, Maurizio, Louveau, Anne-Laure, Herbst, Fabian, Bebin, E Martina, Curatolo, Paolo, Zonta, Andrea, Belousova, Elena

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Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex von Levine, Alexis, Davis, Peter, Zhang, Bo, Peters, Jurriaan, Filip-Dhima, Rajna, Warfield, Simon K., Prohl, Anna, Capal, Jamie, Krueger, Darcy, Bebin, E. Martina, Northrup, Hope, Wu, Joyce Y., Sahin, Mustafa

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Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study von Franz, David Neal, Dr Prof, Belousova, Elena, Prof, Sparagana, Steven, MD, Bebin, E Martina, MD, Frost, Michael, MD, Kuperman, Rachel, MD, Witt, Olaf, Prof, Kohrman, Michael H, Prof, Flamini, J Robert, MD, Wu, Joyce Y, MD, Curatolo, Paolo, Prof, de Vries, Petrus J, Prof, Berkowitz, Noah, MD, Anak, Oezlem, MD, Niolat, Julie, MSc, Jozwiak, Sergiusz, Prof

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Reply to “Chance Bias Arising from TSC2 Mutation Imbalance in the PREVeNT Trial” von Bebin, E. Martina

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Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex von Ihnen, S. Katie Z., Capal, Jamie K., Horn, Paul S., Griffith, Molly, Sahin, Mustafa, Bebin, E. Martina, Wu, Joyce Y., Northrup, Hope, Krueger, Darcy A.

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EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex von Cook, Ian A., Wilson, Andrew C., Peters, Jurriaan M., Goyal, Monisha N., Bebin, E. Martina, Northrup, Hope, Krueger, Darcy, Leuchter, Andrew F., Sahin, Mustafa

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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy von Møller, Rikke S, Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E Martina, Hiatt, Susan M, Prokop, Jeremy W, Bowling, Kevin M, Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H G, Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M, Baulac, Stéphanie

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Interactions between cannabidiol and commonly used antiepileptic drugs von Gaston, Tyler E., Bebin, E. Martina, Cutter, Gary R., Liu, Yuliang, Szaflarski, Jerzy P.

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MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus von Blanchet, Patricia, Bebin, Martina, Bruet, Shaam, Cooper, Gregory M, Thompson, Michelle L, Duban-Bedu, Benedicte, Gerard, Benedicte, Piton, Amelie, Suckno, Sylvie, Deshpande, Charu, Clowes, Virginia, Vogt, Julie, Turnpenny, Peter, Williamson, Michael P, Alembik, Yves, Glasgow, Eric, McNeill, Alisdair

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Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study von Prohl, Anna K, Scherrer, Benoit, Tomas-Fernandez, Xavier, Filip-Dhima, Rajna, Kapur, Kush, Velasco-Annis, Clemente, Clancy, Sean, Carmody, Erin, Dean, Meghan, Valle, Molly, Prabhu, Sanjay P, Peters, Jurriaan M, Bebin, E Martina, Krueger, Darcy A, Northrup, Hope, Wu, Joyce Y, Sahin, Mustafa, Warfield, Simon K

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Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results von Brothers, Kyle B., East, Kelly M., Kelley, Whitley V., Wright, M. Frances, Westbrook, Matthew J., Rich, Carla A., Bowling, Kevin M., Lose, Edward J., Bebin, E. Martina, Simmons, Shirley, Myers, John A., Barsh, Greg, Myers, Richard M., Cooper, Greg M., Pulley, Jill M., Rothstein, Mark A., Clayton, Ellen Wright

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