An algorithm for candidate sequencing in non-dystrophic skeletal muscle channelopathies

被引：0

作者：

Nam, Tai-Seung ^{[1
]}

Lossin, Christoph ^{[2
]}

Kim, Dong-Uk ^{[3
]}

Kim, Myeong-Kyu ^{[1
]}

Kim, Young-Ok ^{[4
]}

Choi, Kang-Ho ^{[1
]}

Choi, Seok-Yong ^{[5
]}

Park, Sang-Cheol ^{[6
]}

Na, In-Seop ^{[6
]}

机构：

[1] Chonnam Natl Univ, Sch Med, Brain Korea Project 21, Dept Neurol, Donggu 501757, Gwangju, South Korea

[2] Univ Calif Davis, Sch Med, Dept Neurol, Sacramento, CA 95817 USA

[3] Chosun Univ, Sch Med, Dept Neurol, Kwangju, South Korea

[4] Chonnam Natl Univ, Sch Med, Dept Pediat, Donggu 501757, Gwangju, South Korea

[5] Chonnam Natl Univ, Sch Med, Dept Biomed Sci, Donggu 501757, Gwangju, South Korea

[6] Chonnam Natl Univ, Sch Elect & Comp Engn, Donggu 501757, Gwangju, South Korea

来源：

JOURNAL OF NEUROLOGY | 2013年 / 260卷 / 07期

关键词：

Channelopathy; Skeletal muscle; Algorithm; Periodic paralysis; Myotonia; SODIUM-CHANNEL MUTATION; PERIODIC PARALYSIS; MYOTONIAS; FEATURES;

D O I：

10.1007/s00415-013-6872-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Human skeletal muscle channelopathies (HSMCs) are a group of heritable conditions with ion channel-related etiology and similar presentation. To create a comprehensive picture of the phenotypic spectrum for each condition and to devise a strategy that facilitates the differential diagnosis, we collected the genotype and phenotype information from more than 500 previously published HSMC studies. Using these records, we were able to identify clear correlations between particular clinical features and the underlying alteration(s) in the genes SCN4A, CACNA1S, KCNJ2, and CLCN1. This allowed us to develop a clinical, symptom-based, binary decision flow algorithm that predicts the proper genetic origin with high accuracy (0.88-0.93). The algorithm was implemented in a stand-alone online tool ("CGPS" http://cgps.ddd.co.kr) to assist with HSCM diagnosis in the clinical practice. The CGPS provides simple, symptom-oriented navigation that guides the user to the most likely molecular basis of the presentation, which permits highly targeted genetic screens and, upon confirmation, tailored pharmacotherapy based on the molecular origin.

引用

页码：1770 / 1777

页数：8

共 13 条

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