NDLI: Mutations of Sodium Channel α-Subunit Genes in Chinese Patients with Normokalemic Periodic Paralysis

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Mutations of Sodium Channel α-Subunit Genes in Chinese Patients with Normokalemic Periodic Paralysis

Content Provider	Springer Nature Link
Author	Xiuhai, Guo Weiping, Wu Ke, Zhu Hongbin, Wang Yiling, Si
Copyright Year	2007
Abstract	In this study, we aim to investigate the clinical features and Mutations of sodium channel α-subunit (SCN4A) genes in Chinese patients with normokalemic periodic paralysis (normoKPP).Six unrelated Chinese families with normoKPP were analyzed in clinical features. Genomic DNA was extracted from peripheral blood leukocytes and amplified with PCR. We screened all 24 exons of SCN4A gene with denaturing high performance liquid chromatography (DHPLC) technology, and then sequence analysis was performed in those who showed heteroduplex as compared with unaffected controls.The laboratory tests were within normal ranges. Electromyograms and electrocardiograms were normal. One muscle biopsy was performed with the patient in family 4 after a brief attack of normoKPP. Examination of light microscopy showed no changes, but electronic microscopy showed occasionally degenerating myofibers. The mutations of SCN4A genes were as follows: ➀ Met1592Val occurred in family 1. ➁ Val-781-Ile occurred with the patient and her father in family 4. ➂ Both the patients had a novel mutation g2101a predicting the amino acid exchange Arg675Gln in family 5, which may be a disease-causing mutation.In addition to Val-781-Ile and Met1592Val, the mutation g2101a (Arg675Gln) may be the novel mutation of SCN4A genes in Chinese patients with normoKPP.
Starting Page	653
Ending Page	661
Page Count	9
File Format	PDF
ISSN	02724340
Journal	Cellular and Molecular Neurobiology
Volume Number	28
Issue Number	5
e-ISSN	15736830
Language	English
Publisher	Springer US
Publisher Date	2007-11-29
Publisher Place	Boston
Access Restriction	Subscribed
Subject Keyword	Normokalemic periodic paralysis Sodium channel SCN4A Mutation Animal Anatomy / Morphology / Histology Neurosciences
Content Type	Text
Resource Type	Article
Subject	Cell Biology Medicine Cellular and Molecular Neuroscience

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