Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Edward C. Cooper"'
Autor:
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 C. Cooper
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 4, Pp 656-663 (2023)
Abstract Precision medicine for Mendelian epilepsy is rapidly developing. We describe an early infant with severely pharmacoresistant multifocal epilepsy. Exome sequencing revealed the de novo variant p.(Leu296Phe) in the gene KCNA1, encoding the vol
Externí odkaz:
https://doaj.org/article/3e01a3140cb74934be0643625cd200a3
Autor:
Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
Publikováno v:
EBioMedicine, Vol 81, Iss , Pp 104130- (2022)
Summary: Background: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional propert
Externí odkaz:
https://doaj.org/article/27289a7516ba4ba9b422fb966fcb4594
Autor:
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. Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George Jr.
Publikováno v:
JCI Insight, Vol 7, Iss 5 (2022)
Hundreds of genetic variants in KCNQ2 encoding the voltage-gated potassium channel KV7.2 are associated with early onset epilepsy and/or developmental disability, but the functional consequences of most variants are unknown. Absent functional annotat
Externí odkaz:
https://doaj.org/article/3ca0b7a7c21f4302b4b8b629aef4802b
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 20, p 12124 (2022)
We describe genetic and molecular-level functional alterations in the α4β2 neuronal nicotinic acetylcholine receptor (nAChR) from a patient with sleep-related hyperkinetic epilepsy and a family history of epilepsy. Genetic sequencing revealed a het
Externí odkaz:
https://doaj.org/article/9e0fc294328b48ffaa4ae023fad5f56c
Autor:
Francesco Miceli, Lidia Carotenuto, Vincenzo Barrese, Maria Virginia Soldovieri, Erin L. Heinzen, Arthur M. Mandel, Natalie Lippa, Louise Bier, David B. Goldstein, Edward C. Cooper, Maria Roberta Cilio, Maurizio Taglialatela, Tristan T. Sands
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Pathogenic variants in KCNQ2 and KCNQ3, paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K+ channel subunits, are responsible for early−onset developmental/epileptic disorders characterized by heterogeneous clinical phenotypes ranging from b
Externí odkaz:
https://doaj.org/article/05430e2eb7dd4b1fbcd4f49e2c141c8d
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Heterozygous missense variants in KCNQ2, which encodes the potassium channel subunit Kv7.2, are among the most common genetic causes of severe neonatal-onset epileptic encephalopathy. Because about 20% of known severe Kv7.2 missense changes lie withi
Externí odkaz:
https://doaj.org/article/69fc3f92e4b4435492dd2fb3874184a1
Autor:
Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Francesco Miceli, Cristina Franco, Lorella Maria Teresa Canzoniero, Beth Kline-Fath, Edward C. Cooper, Charu Venkatesan, Maurizio Taglialatela
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 14, p 3382 (2019)
Kv7.2 subunits encoded by the KCNQ2 gene provide a major contribution to the M-current (IKM), a voltage-gated K+ current crucially involved in the regulation of neuronal excitability. Heterozygous missense variants in Kv7.2 are responsible for epilep
Externí odkaz:
https://doaj.org/article/f73bbf0f609b4324b77697f8a16aa37e
Publikováno v:
Neuron. 110:178-180
In this issue of Neuron, structures by Zheng et al. (2021) provide a newly comprehensive view of KCNQ channel interaction with phosphatidyl inositol 4,5-bisphosphate (PIP2), yielding insights for modulatory mechanisms of channels implicated in deafne
Autor:
Z. Ji, E. Fitch, N. Ghabra, J. Nishtha, Dianalee McKnight, Ingo Helbig, Amanda Lindy, Edward C. Cooper, N. Jairam, Alfred L. George, Sneha Adusumilli, F. Zou, Carlos G. Vanoye, Reshma R. Desai, Kimberly Helbig
Publikováno v:
JCI Insight. 7
Hundreds of KCNQ2 variants have been identified by genetic testing of children with early onset epilepsy and/or developmental disability. Voltage-clamp recording from heterologous cells has proved useful for establishing deleterious functional effect
Autor:
Junzhan Jing, Corrinne Dunbar, Alina Sonesra, Ana Chavez, Suhyeorn Park, Ryan Yang, Heun Soh, Maxwell Lee, Anastasios V. Tzingounis, Edward C. Cooper, Xiaolong Jiang, Atul Maheshwari
Publikováno v:
Exp Neurol
Anti-seizure drug (ASD) targets are widely expressed in both excitatory and inhibitory neurons. It remains unknown if the action of an ASD upon inhibitory neurons could counteract its beneficial effects on excitatory neurons (or vice versa), thereby