Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response

por Daniels, Dee, Knupp, Kelly, Benke, Tim, Wolter-Warmerdam, Kristine, Moran, Maura, Hickey, Fran
Publicado 2019

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

Bi-directional modulation of AMPA receptor unitary conductance by synaptic activity

por Lüthi, Andreas, Wikström, Martin A, Palmer, Mary J, Matthews, Paul, Benke, Tim A, Isaac, John TR, Collingridge, Graham L
Publicado 2004

Adult Phenotype of SYNGAP1-DEE

por Rong, Marlene, Benke, Tim, Zulfiqar Ali, Quratulain, Aledo-Serrano, Ángel, Bayat, Allan, Rossi, Alessandra, Devinsky, Orrin, Qaiser, Farah, Ali, Anum S., Fasano, Alfonso, Bassett, Anne S., Andrade, Danielle M.
Publicado 2023

CDKL5 variants: Improving our understanding of a rare neurologic disorder

por Hector, Ralph D., Kalscheuer, Vera M., Hennig, Friederike, Leonard, Helen, Downs, Jenny, Clarke, Angus, Benke, Tim A., Armstrong, Judith, Pineda, Mercedes, Bailey, Mark E.S., Cobb, Stuart R.
Publicado 2017

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

Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

por Fang, Xiaolan, Butler, Kameryn M., Abidi, Fatima, Gass, Jennifer, Beisang, Arthur, Feyma, Timothy, Ryther, Robin C., Standridge, Shannon, Heydemann, Peter, Jones, Mary, Haas, Richard, Lieberman, David N, Marsh, Eric D., Benke, Tim A., Skinner, Steve, Neul, Jeffrey L., Percy, Alan K., Friez, Michael J., Caylor, Raymond C.
Publicado 2022

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons

por Camp, Chad R., Vlachos, Anna, Klöckner, Chiara, Krey, Ilona, Banke, Tue G., Shariatzadeh, Nima, Ruggiero, Sarah M., Galer, Peter, Park, Kristen L., Caccavano, Adam, Kimmel, Sarah, Yuan, Xiaoqing, Yuan, Hongjie, Helbig, Ingo, Benke, Tim A., Lemke, Johannes R., Pelkey, Kenneth A., McBain, Chris J., Traynelis, Stephen F.
Publicado 2023

Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin-dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology

por Castano, Anna, Silvestre, Margaux, Wells, Carrow I, Sanderson, Jennifer L, Ferrer, Carla A, Ong, Han Wee, Lang, Yi, Richardson, William, Silvaroli, Josie A, Bashore, Frances M, Smith, Jeffery L, Genereux, Isabelle M, Dempster, Kelvin, Drewry, David H, Pabla, Navlot S, Bullock, Alex N, Benke, Tim A, Ultanir, Sila K, Axtman, Alison D
Publicado 2023