Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maria I. Olivero-Acosta"'
Autor:
Xiaoling Chen, Jean-Christophe Rochet, Chongli Yuan, Layan Yunis, J Marshall Shafer, Maria I. Olivero-Acosta, Muriel Eaton, Zhefu Que, Junkai Xie, Anke M Tukker, Jingliang Zhang, Tiange Xiao, Zhuo Huang, Chang-Deng Hu, Kyle Wettschurack, Jiaxiang Wu, Yang Yang, William C. Skarnes, Aaron B. Bowman, James A. Schaber, Darci J. Trader
Publikováno v:
J Neurosci
With the wide adoption of genomic sequencing in children having seizures, an increasing number ofSCN2Agenetic variants have been revealed as genetic causes of epilepsy. Voltage-gated sodium channel Nav1.2, encoded by geneSCN2A, is predominantly expre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401b6115697095c83c5641e97b58120f
https://doi.org/10.1523/jneurosci.0564-21.2021
https://doi.org/10.1523/jneurosci.0564-21.2021
Autor:
Krishna Jayant, J. Hea Lee, Tiange Xiao, James A. Schaber, Shirong Lai, Maria I. Olivero-Acosta, Zhixiong Ma, Yang Yang, Muriel Eaton, Jiayingzi Wu, Zhefu Que, Yueyang Wang, Nadia A. Lanman, T. S. Ahmad, William C. Skarnes, Xiaoling Chen, Jing Zhang, Anthony C Park, Ying Li, Zhuo Huang
Scn2a encodes voltage-gated sodium channel NaV1.2, which mediates neuronal firing. The current paradigm suggests that NaV1.2 gain-of-function variants enhance neuronal excitability resulting in epilepsy, whereas NaV1.2 deficiency impairs neuronal exc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::efcd393d57f7585aa2fbba8bc79267d3
https://doi.org/10.1101/2021.02.02.429384
https://doi.org/10.1101/2021.02.02.429384
Autor:
Muriel Eaton, Zhefu Que, Krishna Jayant, Jiaxiang Wu, Yang Yang, Xiaoling Chen, Ji Hea Lee, Yuansong Li, Tiange Xiao, Talha S. Ahmad, Nadia A. Lanman, James A. Schaber, Zhuo Huang, Zhixiong Ma, Anthony C Park, Chongli Yuan, Maria I. Olivero-Acosta, Jingliang Zhang, Shirong Lai, William C. Skarnes, Yujia Wang
Publikováno v:
Cell reports
Trends Neurosci
Trends Neurosci
SUMMARY Scn2a encodes the voltage-gated sodium channel NaV1.2, a main mediator of neuronal action potential firing. The current paradigm suggests that NaV1.2 gain-of-function variants enhance neuronal excitability, resulting in epilepsy, whereas NaV1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c898abd21ba864f71b21aeaff6f8432c
https://doi.org/10.1016/j.celrep.2021.109495
https://doi.org/10.1016/j.celrep.2021.109495