Pallidal Deep Brain Stimulation for KMT2B Related Dystonia in An Indian Patient

被引：8

作者：

Rajan, Roopa ^{[1
]}

Garg, Kanwaljeet ^{[2
]}

Saini, Arti ^{[1
]}

Kumar, Mukesh ^{[3
]}

Binukumar, B. K. ^{[3
]}

Scaria, Vinod ^{[3
]}

Aggarwal, Rajeev ^{[1
]}

Gupta, Anu ^{[1
]}

Vishnu, V. Y. ^{[1
]}

Garg, Ajay ^{[4
]}

Singh, Mamta Bhushan ^{[1
]}

Bhatia, Rohit ^{[1
]}

Srivastava, Achal K. ^{[1
]}

Srivastava, M. V. Padma ^{[1
]}

Singh, Manmohan ^{[2
]}

机构：

[1] All India Inst Med Sci, Dept Neurol, New Delhi, India

[2] All India Inst Med Sci, Dept Neurosurg, New Delhi, India

[3] Inst Genom & Integrat Biol, CSIR, New Delhi, India

[4] All India Inst Med Sci, Dept Neuroradiol, New Delhi, India

来源：

ANNALS OF INDIAN ACADEMY OF NEUROLOGY | 2021年 / 24卷 / 04期

关键词：

Early-onset generalized dystonia; GPi DBS; KMT2B gene; variants; MUTATIONS;

D O I：

10.4103/aian.AIAN_1316_20

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Outcomes of pallidal stimulation in KMT2B dystonia have been infrequently reported prospectively. We report the six-month outcomes of bilateral GPi DBS in an Asian Indian patient with early-onset generalized dystonia associated with a novel heterozygous variant in the KMT2B gene.

引用

页码：586 / 588

页数：3

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