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

Roopa Rajan,Kanwaljeet Garg,Arti Saini,Mukesh Kumar,BK Binukumar,Vinod Scaria,Rajeev Aggarwal,Anu Gupta,VY Vishnu,Ajay Garg,MamtaBhushan Singh,Rohit Bhatia,AchalK Srivastava,MV Padma Srivastava,Manmohan Singh

ANNALS OF INDIAN ACADEMY OF NEUROLOGY（2021）

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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.

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关键词

Early-onset generalized dystonia, GPi DBS, KMT2B gene, variants

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