Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing-Reference-Cited by-同舟云学术

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Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

Published:2015-06 Issue: Volume:4 Page:65-68
ISSN:2213-5960
Container-title:Genomics Data
language:en
Short-container-title:Genomics Data

Author:

Li Jinxin,Huang Qinghai,Ge Liang,Xu Jing,Shi Xingjuan,Xie Wei,Liu Xiang,Liu Xiangdong

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Genetics,Molecular Medicine,Biochemistry,Biotechnology

Reference24 articles.

1. Paramyotonia Congenita;Baxter;Can. Med. Assoc. J.,1961

2. Channelopathies: a review;Bernard;Pediatr. Neurol.,2008

3. Overexcited or inactive: ion channels in muscle disease;Hoffman;Cell,1995

4. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel;George;Ann. Neurol.,1992

5. Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence;Noda;Nature,1984

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1. Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia;Epilepsia Open;2024-03-27

2. Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review;Journal of Neuromuscular Diseases;2020-03-20

3. Prolonged attacks of weakness with hypokalemia in SCN4A -related paramyotonia congenita;Muscle & Nerve;2018-09-03

4. Designing price-contingent vegetable rotation schedules using agent-based simulation;Journal of Integrative Agriculture;2018-02

5. Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature;Channels;2016-08-11

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