Abstract
Episodic ataxia type 1 (EA1) is an autosomal-dominant neurological disease caused by point mutations in the potassium channel-encoding gene 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.
Original language | English |
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Pages (from-to) | 399-402 |
Number of pages | 4 |
Journal | Muscle and Nerve |
Volume | 37 |
Issue number | 3 |
DOIs | |
State | Published - Mar 2008 |
Externally published | Yes |
Keywords
- Episodic ataxia type 1
- Genetics
- Ion channel gene mutation
- KCNA1
- Myokymia
- Respiratory muscles
- Rippling muscles