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Article

Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Jul 2020

Zhu Guan-Yu, Zhang Rui-Li, Chen Ying-Chuan, Liu Yu-Ye, Liu De-Feng, Wang Shou-Yan, Jiang Yin, Zhang Jian-Guo

Abstract excerpt

OBJECTIVE: We focused on a rare gene mutation causing dystonia in two siblings who received globus pallidus internus deep brain stimulation (GPi-DBS). The aim was to characterize the relationship between neuronal activity patterns and clinical syndromes. METHODS: Whole exome sequencing was applied to identify the TWNK (previous symbol C10orf2) mutation; Two siblings with TWNK mutation presented as generalized...

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PMID: 32387964
DOI: 10.1016/j.clinph.2020.03.023

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