EdwardCCooperMD

PubMed

• Plural molecular and cellular mechanisms of pore domainencephalopathy.
  Abreo, T., Thompson, E., Madabushi, A., Soh, H., Varghese, N., Vanoye, C., Springer, K., Park, K., Johnson, J., Sims, S., Ji, Z., Chavez, A., Jankovic, M., Habte, B., ...> ;Biorxiv. 2024 Feb 8
• Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
  Bayat, A., Iavarone, S., Miceli, F., Jakobsen, A., Johannesen, K., Nikanorova, M., Ploski, R., Szymanska, K., Weckhuysen, S., Taglialatela, M., Møller, R., Flamini, R....> ;Neurotherapeutics. 2024 Jan 1
• 8 citations
  KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.
  Peter Müller, Danielle S Takacs, Ulrike B S Hedrich, Rohini Coorg, Laura Masters, Kevin E Glinton, Hongzheng Dai, Jon A Cokley, James J Riviello, Holger Lerche, Edward...> ;Annals of Clinical and Translational Neurology. 2023 Apr 1
• 3 citations
  Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening.
  Simone Mazzaferro, Deborah J Msekela, Edward C Cooper, Atul Maheshwari, Steven M Sine> ;International Journal of Molecular Sciences. 2022 Oct 12
• 13 citations
  KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
  Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, Willia...> ;Ebiomedicine. 2022 Jul 1
• 3 citations
  Removal of KCNQ2 from parvalbumin-expressing interneurons improves anti-seizure efficacy of retigabine.
  Junzhan Jing, Corrinne Dunbar, Alina Sonesra, Ana Chavez, Suhyeorn Park, Ryan Yang, Heun Soh, Maxwell Lee, Anastasios V Tzingounis, Edward C Cooper, Xiaolong Jiang, At...> ;Experimental Neurology. 2022 Sep 1
• 26 citations
  High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
  Carlos G Vanoye, Reshma R Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L Helbig, Dianalee McKnight, Amanda S ...> ;JCI Insight. 2022 Mar 8
• 1 citations
  KCNQ channel PIP2 modulation: Two loose links, three rings, and a twist.
  Edward C Cooper, Timothy Abreo, Baouyen Tran> ;Neuron. 2022 Jan 19
• 10 citations
  Adult phenotype of KCNQ2 encephalopathy.
  Stephanie Boets, Katrine M Johannesen, Anne Destree, Filippo Manti, Georgia Ramantani, Gaetan Lesca, Laurent Vercueil, Mary Kay Koenig, Pasquale Striano, Rikke S. Møll...> ;Journal of Medical Genetics. 2021 Apr 2
• 5 citations
  Two KCNQ2 Encephalopathy Variants in the Calmodulin-Binding Helix A Exhibit Dominant-Negative Effects and Altered PIP2 Interaction
  Baouyen Tran, Zhi Gang Ji, Mingxuan Xu, Tammy Tsuchida, Edward C. Cooper> ;Frontiers in Physiology. 2020 Sep 11
• 6 citations
  A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.
  Francesco Miceli, Lidia Carotenuto, Vincenzo Barrese, Maria Virginia Soldovieri, Erin L. Heinzen, Arthur M. Mandel, Natalie Lippa, Louise Bier, David Goldstein, Edward...> ;Frontiers in Physiology. 2020 Sep 4
• 48 citations
  Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.
  Ayako Goto, Atsushi Ishii, Mami Shibata, Yukiko Ihara, Edward C. Cooper, Shinichi Hirose> ;Epilepsia. 2019 Sep 1
• 13 citations
  Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features.
  Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Francesco Miceli, Cristina Franco, Lorella M.T. Canzoniero, Beth M. Kline-Fath, Edward C. Cooper, Charu Venka...> ;International Journal of Molecular Sciences. 2019 Jul 10
• 56 citations
  Autism and developmental disability caused by KCNQ3 gain-of-function variants.
  Tristan T. Sands, Francesco Miceli, Gaetan Lesca, Anita E. Beck, Lynette G. Sadleir, Daniel K. Arrington, Bitten Schönewolf-Greulich, Sébastien Moutton, Anna Lauritano...> ;Annals of Neurology. 2019 Jun 8
• 42 citations
  Ankyrin-G isoform imbalance and interneuronopathy link epilepsy and bipolar disorder.
  A. Y. Lopez, X. Wang, Mingxuan Xu, Atul Maheshwari, Daniel J. Curry, Sandi Lam, Adekunle M. Adesina, Qian-Quan Sun, Edward C. Cooper> ;Molecular Psychiatry. 2017 Oct 1
• 56 citations
  Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H
  Sarah B. Mulkey, Bruria Ben-Zeev, Joost Nicolai, John L. Carroll, Sabine Grønborg, Yong-hui Jiang, Nishtha Joshi, Megan L. Kelly, David A. Koolen, Mohamad A. Mikati, K...> ;Epilepsia. 2017 Jan 31
• 60 citations
  Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
  John Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A....> ;Epilepsia. 2017 Jan 1
• 118 citations
  KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
  , , , , , , , , , , , , , , , , , , , , , > ;Neurology. Genetics. 2016 Oct 1
• 48 citations
  An Ankyrin-G N-terminal Gate and Protein Kinase CK2 Dually Regulate Binding of Voltage-gated Sodium and KCNQ2/3 Potassium Channels
  Mingxuan Xu, Edward C. Cooper> ;The Journal of Biological Chemistry. 2015 Jul 3
• 9 citations
  Ion channel expression in the developing enteric nervous system
  Caroline S. Hirst, Jaime Pei Pei Foong, Lincon A. Stamp, Emily Fegan, Stephan Dent, Edward C. Cooper, Alan E. Lomax, Colin R. Anderson, Joel C. Bornstein, Heather M. Y...> ;Plos One. 2015 Mar 23
• 76 citations
  Cholinergic afferent stimulation induces axonal function plasticity in adult hippocampal granule cells.
  Katiuscia Martinello, Zhuo Huang, Rafael Luján, Baouyen Tran, Masahiko Watanabe, Edward C. Cooper, David Brown, Mala M. Shah> ;Neuron. 2015 Jan 21
• 69 citations
  GLIAL ANKYRINS FACILITATE PARANODAL AXOGLIAL JUNCTION ASSEMBLY
  Kae-Jiun Chang, Daniel R. Zollinger, Keiichiro Susuki, Diane L. Sherman, Michael A. Makara, Peter J. Brophy, Edward C. Cooper, Vann Bennett, Peter J. Mohler, Matthew N...> ;Nature Neuroscience. 2014 Dec 1
• 82 citations
  A hierarchy of ankyrin-spectrin complexes clusters sodium channels at nodes of Ranvier
  Tammy Szu-Yu Ho, Daniel R. Zollinger, Kae-Jiun Chang, Mingxuan Xu, Edward C. Cooper, Michael C. Stankewich, Vann Bennett, Matthew N. Rasband> ;Nature Neuroscience. 2014 Dec 1
• 7 citations
  Axonal Kv7.2/7.3 channels: caught in the act.
  Maarten H. P. Kole, Edward C. Cooper> ;Channels. 2014 Jul 23
• 34 citations
  Channel-anchored Protein Kinase CK2 and Protein Phosphatase 1 Reciprocally Regulate KCNQ2-containing M-channels via Phosphorylation of Calmodulin
  Seungwoo Kang, Mingxuan Xu, Edward C. Cooper, Naoto Hoshi> ;The Journal of Biological Chemistry. 2014 Apr 18
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