Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin‐dependent kinase‐like 5 deficiency disorder

por Downs, Jenny, Jacoby, Peter, Saldaris, Jacinta, Leonard, Helen, Benke, Tim, Marsh, Eric, Demarest, Scott
Publicado 2022

Correction to: Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

por Wong, Kingsley, Junaid, Mohammed, Demarest, Scott, Saldaris, Jacinta, Benke, Tim A., Marsh, Eric D., Downs, Jenny, Leonard, Helen
Publicado 2022

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

por Wong, Kingsley, Junaid, Mohammed, Demarest, Scott, Saldaris, Jacinta, Benke, Tim A., Marsh, Eric D., Downs, Jenny, Leonard, Helen
Publicado 2022

4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome

por Calhoun, Jeffrey Dennis, Gunti, Jonathan, Angione, Katie, Geiger, Elizabeth, Eschbach, Krista, Smith, Garnett, Joshi, Charuta, Shaikh, Tamim, Demarest, Scott, Carvill, Gemma
Publicado 2020

Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder

por Kalvakuntla, Sanjana, Lee, MinJae, Chung, Wendy K., Demarest, Scott, Freed, Amber, Horning, Kyle J., Bichell, Terry Jo, Iannaccone, Susan T., Goodspeed, Kimberly
Publicado 2023

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

por Amin, Sam, Monaghan, Marie, Aledo-Serrano, Angel, Bahi-Buisson, Nadia, Chin, Richard F., Clarke, Angus J., Cross, J. Helen, Demarest, Scott, Devinsky, Orrin, Downs, Jenny, Pestana Knight, Elia M., Olson, Heather, Partridge, Carol-Anne, Stuart, Graham, Trivisano, Marina, Zuberi, Sameer, Benke, Tim A.
Publicado 2022

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder

por Olson, Heather E., Daniels, Carolyn I., Haviland, Isabel, Swanson, Lindsay C., Greene, Caitlin A., Denny, Anne Marie M., Demarest, Scott T., Pestana-Knight, Elia, Zhang, Xiaoming, Moosa, Ahsan N., Fidell, Andrea, Weisenberg, Judith L., Suter, Bernhard, Fu, Cary, Neul, Jeffrey L., Percy, Alan K., Marsh, Eric D., Benke, Timothy A., Poduri, Annapurna
Publicado 2021

Current knowledge of SLC6A1-related neurodevelopmental disorders

por Goodspeed, Kimberly, Pérez-Palma, Eduardo, Iqbal, Sumaiya, Cooper, Dominique, Scimemi, Annalisa, Johannesen, Katrine M, Stefanski, Arthur, Demarest, Scott, Helbig, Katherine L, Kang, Jingqiong, Shaffo, Frances C, Prentice, Brandon, Brownstein, Catherine A, Lim, Byungchan, Helbig, Ingo, De Los Reyes, Emily, McKnight, Dianalee, Crunelli, Vincenzo, Campbell, Arthur J, Møller, Rikke S, Freed, Amber, Lal, Dennis
Publicado 2020

Assessing the landscape of STXBP1-related disorders in 534 individuals

por Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M, Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C, Ellis, Colin A, Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O’Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, El Achkar, Christelle M, Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S, Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo
Publicado 2021