Article
Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation.
European journal of neurology - 1 Apr 2012
Lim B C, Ki C-S, Cho A, Hwang H, Kim K J, Hwang Y S, Kim Y E, Yun J Y, Jeon B S, Lim Y H, Paek S H, Chae J H
Abstract excerpt
BACKGROUND AND PURPOSE: The purpose of this study was to evaluate the mutation status of PANK2 among Korean patients with pantothenate kinase-associated neurodegeneration (PKAN) and to document the outcome of pallidal deep brain stimulation (DBS). METHODS: Direct sequencing and deletion/duplication analysis of PANK2 were conducted in 12 patients (11 unrelated) with PKAN, diagnosed on the basis of extrapyramidal...
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