Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Nishtha Joshi"'
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:
The International Journal of Energy, Information and Communications. 8:21-26
Publikováno v:
2018 5th International Conference on Signal Processing and Integrated Networks (SPIN).
The effect of time synchronization within the sensor nodes in Wireless Sensor Networks is an ongoing research area. It has received a huge amount of attention in the last decade. This paper discusses nature inspired algorithm, Ant Colony Optimization
Autor:
Parul Kansal, Nishtha Joshi
Publikováno v:
2017 International Conference on Emerging Trends in Computing and Communication Technologies (ICETCCT).
In this paper a novel approach of data collection using mobile sink is considered for energy harvesting wireless sensor network. Data collection through mobile sink conserves the fast depletion of energy so energy hole problem can be reduced by using
Autor:
Francesco Miceli, Nishtha Joshi, Edward C. Cooper, Maurizio Taglialatela, Maria Virginia Soldovieri, Paolo Ambrosino, Mohamad A. Mikati, Vandana Shashi, John Millichap, Baouyen Tran, Cynthia Keator, Michela De Maria
Summary Variants in KCNQ2 encoding for Kv7.2 neuronal K+ channel subunits lead to a spectrum of neonatal-onset epilepsies, ranging from self-limiting forms to severe epileptic encephalopathy. Most KCNQ2 pathogenic variants cause loss-of-function, whe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::032112795e882164dabf800d70395b13
http://hdl.handle.net/11695/75020
http://hdl.handle.net/11695/75020
Autor:
Edward C. Cooper, Sarah Weckhuysen, Sabine Grønborg, Maurizio Taglialatela, Yong-hui Jiang, Sarah B. Mulkey, John L. Carroll, Phillip L. Pearl, Rebecca C. Spillmann, Maria Roberta Cilio, Silvia Vieker, Kristen Park, Ingrid E. Scheffer, Nishtha Joshi, David A. Koolen, Megan L. Kelly, Bruria Ben-Zeev, Joost Nicolai, Mohamad A. Mikati
Publikováno v:
Epilepsia, 58, 436-445
Epilepsia
Epilepsia, 58(3), 436-445. Wiley
Epilepsia, 58, 3, pp. 436-445
Epilepsia
Epilepsia, 58(3), 436-445. Wiley
Epilepsia, 58, 3, pp. 436-445
Objective: To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome.Methods: Ten children with heterozygous, de novo KCNQ2 R201C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::528fec315046e896702ba6f55f2d83b8
http://hdl.handle.net/2066/169763
http://hdl.handle.net/2066/169763
Autor:
Paul M. Levisohn, Tammy Tsuchida, John Millichap, Brenda E. Porter, Eric D. Marsh, Lionel Carmant, Srishti Nangia, Emily L. McGinnis, Molly Tracy, Sarah Weckhuysen, Marc C. Patterson, Robert Flamini, Baouyen Tran, Keri Ramsey, Bruria Ben-Zeev, Charu Venkatesan, Vinodh Narayanan, Kristen Park, Nishtha Joshi, Edward C. Cooper, Xilma R. Ortiz-Gonzalez, Maurizio Taglialatela, Phillip L. Pearl
Publikováno v:
Neurology : Genetics
Neurology: Genetics
Neurology: Genetics
Objective: To advance the understanding of KCNQ2 encephalopathy genotype–phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments. Methods: We retrospectively studied 23 patients with KCN