Zobrazeno 1 - 10
of 678
pro vyhledávání: '"Paroxysmal kinesigenic dyskinesia"'
Publikováno v:
Heliyon, Vol 10, Iss 17, Pp e36739- (2024)
Background: Previous studies have indicated that patients with Paroxysmal Kinesigenic Dyskinesia (PKD) exhibit reduced gray matter volume in certain brain regions within the cortico-striato-thalamo-cortical (CSTC) loop. However, a comprehensive inves
Externí odkaz:
https://doaj.org/article/4beb0bc36af448d0a5c9ec107d41557a
Publikováno v:
Archives of Epilepsy, Vol 29, Iss 4, Pp 121-125 (2023)
Variations in the PRRT2 gene have been shown to cause a variety of diseases, including benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD). Next-generation sequencing techniques have allowed the broadening of this di
Externí odkaz:
https://doaj.org/article/8c742351b3444bba8d5101c628e36551
Autor:
Min Wen, Hui Huang, Fei Huang, Ru Xu, Jing Zhang, Jia‐Geng Fan, Jun Zeng, Kai‐Wen Jiang, Ding Liu, Hua‐Lin Huang, Qing‐Nan He
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)
Abstract Background Paroxysmal kinesigenic dyskinesia (PKD) is the most prevalent kind type of paroxysmal Dyskinesia, characterized by recurrent and transient episodes of involuntary movements. Most PKD cases were attributed to the proline‐rich tra
Externí odkaz:
https://doaj.org/article/0728a5e7d7474c87b30502fe04d30d25
Publikováno v:
Heliyon, Vol 10, Iss 7, Pp e28674- (2024)
Paroxysmal kinesigenic dyskinesia (PKD) represents the most prevalent form of paroxysmal dyskinesia, characterized by recurrent and transient attacks of involuntary movements triggered by a sudden voluntary action. In this study, whole-exome sequenci
Externí odkaz:
https://doaj.org/article/be5a4e563feb4238a07d320d2d063574
Autor:
Huichun Luo, Xiaojun Huang, Ziyi Li, Wotu Tian, Kan Fang, Taotao Liu, Shige Wang, Beisha Tang, Ji Hu, Ti‐Fei Yuan, Li Cao
Publikováno v:
Advanced Science, Vol 11, Iss 12, Pp n/a-n/a (2024)
Abstract Paroxysmal kinesigenic dyskinesia (PKD) is associated with a disturbance of neural circuit and network activities, while its neurophysiological characteristics have not been fully elucidated. This study utilized the high‐density electroenc
Externí odkaz:
https://doaj.org/article/eb34c831b21f4cacbbc0ca2beaae6e4b
Autor:
Heather Leduc‐Pessah, Asif Doja
Publikováno v:
Annals of the Child Neurology Society, Vol 1, Iss 2, Pp 149-151 (2023)
Externí odkaz:
https://doaj.org/article/59102859c4a6453283e2348a8e58b952
Autor:
Fangfang Xie, Ting Mao, Jingyi Tang, Linmei Zhao, Jiuqing Guo, Huashan Lin, Dongcui Wang, Gaofeng Zhou
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionPrevious studies have revealed structural, functional, and metabolic changes in brain regions inside the cortico-striatal-thalamo-cortical (CSTC) loop in patients with paroxysmal kinesigenic dyskinesia (PKD), whereas no quantitative susce
Externí odkaz:
https://doaj.org/article/f6bd5ea9967243fe8ccb0a6bfdcaaae2
Autor:
Bruno Sterlini, Francesca Franchi, Lisastella Morinelli, Beatrice Corradi, Chiara Parodi, Martina Albini, Alessandra Bianchi, Antonella Marte, Pietro Baldelli, Giulio Alberini, Luca Maragliano, Pierluigi Valente, Fabio Benfenati, Anna Corradi
Publikováno v:
Neurobiology of Disease, Vol 183, Iss , Pp 106177- (2023)
PRRT2 is a neuronal protein that controls neuronal excitability and network stability by modulating voltage-gated Na+ channel (Nav). PRRT2 pathogenic variants cause pleiotropic syndromes including epilepsy, paroxysmal kinesigenic dyskinesia and episo
Externí odkaz:
https://doaj.org/article/213d01efb0dc4b71bc3a8d98e098919a
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