Preliminary study on pathogenic mechanism of first Chinese family with PNKD

Chen Feng; Zhang Shaohui; Liu Tinghong; Yuan Liu; Wang Yangshuo; Zhang Guojun; Liang Shuli

doi:10.1515/tnsci-2022-0222

Translational Neuroscience (Jun 2022)

Preliminary study on pathogenic mechanism of first Chinese family with PNKD

Chen Feng,
Zhang Shaohui,
Liu Tinghong,
Yuan Liu,
Wang Yangshuo,
Zhang Guojun,
Liang Shuli

Affiliations

Chen Feng: Functional Neurosurgery Department, National Children’s Health Center of China, Beijing Children’s Hospital, Capital Medical University, No. 56, Nanlishi Road, Xicheng District, Beijing, 100045, China
Zhang Shaohui: Neurosurgery Department, PLA General Hospital, No. 28 Fuxing Road, Haidian District, Beijing, 100853, China
Liu Tinghong: Functional Neurosurgery Department, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China, No. 56, Nanlishi Road, Xicheng District, Beijing, 100045, China
Yuan Liu: Functional Neurosurgery Department, National Children’s Health Center of China, Beijing Children’s Hospital, Capital Medical University, No. 56, Nanlishi Road, Xicheng District, Beijing, 100045, China
Wang Yangshuo: Functional Neurosurgery Department, National Children’s Health Center of China, Beijing Children’s Hospital, Capital Medical University, No. 56, Nanlishi Road, Xicheng District, Beijing, 100045, China
Zhang Guojun: Functional Neurosurgery Department, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China, No. 56, Nanlishi Road, Xicheng District, Beijing, 100045, China
Liang Shuli: Functional Neurosurgery Department, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China, No. 56, Nanlishi Road, Xicheng District, Beijing, 100045, China

DOI: https://doi.org/10.1515/tnsci-2022-0222
Journal volume & issue: Vol. 13, no. 1
pp. 125 – 133

Abstract

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The first Chinese family with paroxysmal non-kinesigenic dystonia (PNKD) was confirmed to harbour a PNKD mutation. However, the pathogenic mechanism of the PNKD-causing gene mutation was unclear.

Published in Translational Neuroscience

ISSN: 2081-6936 (Online)
Publisher: De Gruyter
Country of publisher: Poland
LCC subjects: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry
Website: http://www.degruyter.com/view/j/tnsci

About the journal

Abstract

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