Axonal Kv7.2/7.3 channels: Caught in the act

por Kole, Maarten HP, Cooper, Edward C
Publicado 2014

Two KCNQ2 Encephalopathy Variants in the Calmodulin-Binding Helix A Exhibit Dominant-Negative Effects and Altered PIP(2) Interaction

por Tran, Baouyen, Ji, Zhi-Gang, Xu, Mingxuan, Tsuchida, Tammy N., Cooper, Edward C.
Publicado 2020

Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening

por Mazzaferro, Simone, Msekela, Deborah J., Cooper, Edward C., Maheshwari, Atul, Sine, Steven M.
Publicado 2022

Ion Channel Clustering at the Axon Initial Segment and Node of Ranvier Evolved Sequentially in Early Chordates

por Hill, Alexis S., Nishino, Atsuo, Nakajo, Koichi, Zhang, Giuxin, Fineman, Jaime R., Selzer, Michael E., Okamura, Yasushi, Cooper, Edward C.
Publicado 2008

Cholinergic Afferent Stimulation Induces Axonal Function Plasticity in Adult Hippocampal Granule Cells

por Martinello, Katiuscia, Huang, Zhuo, Lujan, Rafael, Tran, Baouyen, Watanabe, Masahiko, Cooper, Edward C., Brown, David A., Shah, Mala M.
Publicado 2015

A HIERARCHY OF ANKYRIN/SPECTRIN COMPLEXES CLUSTERS SODIUM CHANNELS AT NODES OF RANVIER

por Ho, Tammy Szu-Yu, Zollinger, Daniel R., Chang, Kae-Jiun, Xu, Mingxuan, Cooper, Edward C., Stankewich, Michael C., Bennett, Vann, Rasband, Matthew N.
Publicado 2014

Ankyrin-G isoform imbalance and interneuronopathy link epilepsy and bipolar disorder

por Lopez, Angel Y., Wang, Xinjun, Xu, Mingxuan, Maheshwari, Atul, Curry, Daniel, Lam, Sandi, Adesina, Adekunle M., Noebels, Jeffrey L., Sun, Qian-Quan, Cooper, Edward C.
Publicado 2016

Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S(2) Transmembrane Segment: Clinical, Genetic, and Functional Features

por Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Miceli, Francesco, Franco, Cristina, Canzoniero, Lorella Maria Teresa, Kline-Fath, Beth, Cooper, Edward C., Venkatesan, Charu, Taglialatela, Maurizio
Publicado 2019

KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine

por Müller, Peter, Takacs, Danielle S., Hedrich, Ulrike B. S., Coorg, Rohini, Masters, Laura, Glinton, Kevin E., Dai, Hongzheng, Cokley, Jon A., Riviello, James J., Lerche, Holger, Cooper, Edward C.
Publicado 2023

GLIAL ANKYRINS FACILITATE PARANODAL AXOGLIAL JUNCTION ASSEMBLY

por Chang, Kae-Jiun, Zollinger, Daniel R., Susuki, Keiichiro, Sherman, Diane L., Makara, Michael A., Brophy, Peter J., Cooper, Edward C., Bennett, Vann, Mohler, Peter J., Rasband, Matthew N.
Publicado 2014

Ion Channel Expression in the Developing Enteric Nervous System

por Hirst, Caroline S., Foong, Jaime P. P., Stamp, Lincon A., Fegan, Emily, Dent, Stephan, Cooper, Edward C., Lomax, Alan E., Anderson, Colin R., Bornstein, Joel C., Young, Heather M., McKeown, Sonja J.
Publicado 2015

A Novel Kv7.3 Variant in the Voltage-Sensing S(4) Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate

por Miceli, Francesco, Carotenuto, Lidia, Barrese, Vincenzo, Soldovieri, Maria Virginia, Heinzen, Erin L., Mandel, Arthur M., Lippa, Natalie, Bier, Louise, Goldstein, David B., Cooper, Edward C., Cilio, Maria Roberta, Taglialatela, Maurizio, Sands, Tristan T.
Publicado 2020

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

por Vanoye, Carlos G., Desai, Reshma R., Ji, Zhigang, Adusumilli, Sneha, Jairam, Nirvani, Ghabra, Nora, Joshi, Nishtha, Fitch, Eryn, Helbig, Katherine L., McKnight, Dianalee, Lindy, Amanda S., Zou, Fanggeng, Helbig, Ingo, Cooper, Edward C., George, Alfred L.
Publicado 2022

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients

por Millichap, John J., Park, Kristen L., Tsuchida, Tammy, Ben-Zeev, Bruria, Carmant, Lionel, Flamini, Robert, Joshi, Nishtha, Levisohn, Paul M., Marsh, Eric, Nangia, Srishti, Narayanan, Vinodh, Ortiz-Gonzalez, Xilma R., Patterson, Marc C., Pearl, Phillip L., Porter, Brenda, Ramsey, Keri, McGinnis, Emily L., Taglialatela, Maurizio, Tracy, Molly, Tran, Baouyen, Venkatesan, Charu, Weckhuysen, Sarah, Cooper, Edward C.
Publicado 2016

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

por Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H., Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G. Christoph, Kluger, Gerhard, Mefford, Heather C., Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C., Taglialatela, Maurizio, Weckhuysen, Sarah
Publicado 2022