期刊
MUSCLE & NERVE
卷 37, 期 3, 页码 399-402出版社
JOHN WILEY & SONS INC
DOI: 10.1002/mus.20904
关键词
episodic ataxia type 1; genetics; ion channel gene mutation; KCNA1; myokymia; respiratory muscles; rippling muscles
资金
- NIDCD NIH HHS [P50 DC02952] Funding Source: Medline
Episodic ataxia type 1 (EA1) is an autosomal-dominant neurological disease caused by point mutations in the potassium channel-encoding gone KCNA1. It is characterized by attacks of ataxia and continuous myokymia. Respiratory muscle involvement has not been previously reported in EA1. We clinically evaluated a family with features of EA1 and paroxysmal shortness of breath. Coding and flanking intronic regions of KCNA1 were sequenced. We identified a novel 3-nucleotide deletion mutation in KCNA1 in the affected individuals. Our findings of a deletion mutation with unusual respiratory muscle involvement expand the genetic and clinical spectrum of EA1.
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