Final analysis of potential drug–drug interactions between highly purified cannabidiol and anti‐seizure medications in an open‐label expanded access program

por Gaston, Tyler E., Bebin, E. Martina, Cutter, Gary R., Grayson, Leslie, Szaflarski, Jerzy P.
Publicado 2023

Long‐term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open‐label extension trial

por Thiele, Elizabeth A., Bebin, E. Martina, Filloux, Francis, Kwan, Patrick, Loftus, Rachael, Sahebkar, Farhad, Sparagana, Steven, Wheless, James
Publicado 2021

The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma

por Bissler, John J., Franz, David N., Frost, Michael D., Belousova, Elena, Bebin, E. Martina, Sparagana, Steven, Berkowitz, Noah, Ridolfi, Antonia, Kingswood, J. Christopher
Publicado 2017

Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment‐Resistant Epilepsy

por Davis, Brittney H., Beasley, T. Mark, Amaral, Michelle, Szaflarski, Jerzy P., Gaston, Tyler, Perry Grayson, Leslie, Standaert, David G, Bebin, E. Martina, Limdi, Nita A.
Publicado 2021

Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis

por 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
Publicado 2018

Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial

por Thiele, Elizabeth A., Bebin, E. Martina, Bhathal, Hari, Jansen, Floor E., Kotulska, Katarzyna, Lawson, John A., O'Callaghan, Finbar J., Wong, Michael, Sahebkar, Farhad, Checketts, Daniel, Knappertz, Volker
Publicado 2020

Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder

por Prohl, Anna K., Scherrer, Benoit, Tomas-Fernandez, Xavier, Davis, Peter E., Filip-Dhima, Rajna, Prabhu, Sanjay P., Peters, Jurriaan M., Bebin, E. Martina, Krueger, Darcy A., Northrup, Hope, Wu, Joyce Y., Sahin, Mustafa, Warfield, Simon K.
Publicado 2019

Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study

por 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
Publicado 2016

Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study

por Wu, Joyce Y., Goyal, Monisha, Peters, Jurriaan M., Krueger, Darcy, Sahin, Mustafa, Northrup, Hope, Au, Kit S., O’Kelley, Sarah, Williams, Marian, Pearson, Deborah A., Hanson, Ellen, Byars, Anna W., Krefting, Jessica, Beasley, Mark, Cutter, Gary, Limdi, Nita, Bebin, E. Martina
Publicado 2019

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

por Guella, Ilaria, Huh, Linda, McKenzie, Marna B., Toyota, Eric B., Bebin, E. Martina, Thompson, Michelle L., Cooper, Gregory M., Evans, Daniel M., Buerki, Sarah E., Adam, Shelin, Van Allen, Margot I., Nelson, Tanya N., Connolly, Mary B., Farrer, Matthew J., Demos, Michelle
Publicado 2016

Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study

por 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.
Publicado 2019

Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

por Hiatt, Susan M., Lawlor, James M.J., Handley, Lori H., Ramaker, Ryne C., Rogers, Brianne B., Partridge, E. Christopher, Boston, Lori Beth, Williams, Melissa, Plott, Christopher B., Jenkins, Jerry, Gray, David E., Holt, James M., Bowling, Kevin M., Bebin, E. Martina, Grimwood, Jane, Schmutz, Jeremy, Cooper, Gregory M.
Publicado 2021

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

por 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
Publicado 2016

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

por Felker, Stephanie A, Lawlor, James MJ, Hiatt, Susan M, Thompson, Michelle L, Latner, Donald R, Finnila, Candice R, Bowling, Kevin M, Bonnstetter, Zachary T, Bonini, Katherine E, Kelly, Nicole R, Kelley, Whitley V, Hurst, Anna CE, Kelly, Melissa A, Nakouzi, Ghunwa, Hendon, Laura G, Bebin, E Martina, Kenny, Eimear E, Cooper, Gregory M
Publicado 2023

Genomic sequencing identifies secondary findings in a cohort of parent study participants

por Thompson, Michelle L., Finnila, Candice R., Bowling, Kevin M., Brothers, Kyle B., Neu, Matthew B., Amaral, Michelle D., Hiatt, Susan M., East, Kelly M., Gray, David E., Lawlor, James M.J., Kelley, Whitley V., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Levy, Shawn E., Myers, Richard M., Barsh, Gregory S., Bebin, E. Martina, Cooper, Gregory M.
Publicado 2018

Genomic diagnosis for children with intellectual disability and/or developmental delay

por Bowling, Kevin M., Thompson, Michelle L., Amaral, Michelle D., Finnila, Candice R., Hiatt, Susan M., Engel, Krysta L., Cochran, J. Nicholas, Brothers, Kyle B., East, Kelly M., Gray, David E., Kelley, Whitley V., Lamb, Neil E., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Whittle, Jana S., Weaver, Benjamin T., Nesmith, Amy S., Myers, Richard M., Barsh, Gregory S., Bebin, E. Martina, Cooper, Gregory M.
Publicado 2017

Disruption of MeCP2–TCF20 complex underlies distinct neurodevelopmental disorders

por Zhou, Jian, Hamdan, Hamdan, Yalamanchili, Hari Krishna, Pang, Kaifang, Pohodich, Amy E., Lopez, Joanna, Shao, Yingyao, Oses-Prieto, Juan A., Li, Lifang, Kim, Wonho, Durham, Mark A., Bajikar, Sameer S., Palmer, Donna J., Ng, Philip, Thompson, Michelle L., Bebin, E. Martina, Müller, Amelie J., Kuechler, Alma, Kampmeier, Antje, Haack, Tobias B., Burlingame, Alma L., Liu, Zhandong, Rasband, Matthew N., Zoghbi, Huda Y.
Publicado 2022

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

por Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.
Publicado 2018

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

por Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Publicado 2020