Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.

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.

• Authors: Steven J Shook, Hafsa Mamsa, Joanna C Jen, Robert W Baloh, Lan Zhou
• Journal: Muscle & nerve (Muscle Nerve) Vol. 37 Issue 3 Pg. 399-402 (Mar 2008) ISSN: 0148-639X [Print] United States
• PMID: 17912752 (Publication Type: Journal Article, Research Support, N.I.H., Extramural)

Chemical References

• KCNA1 protein, human
• Kv1.1 Potassium Channel

Topics

• Adolescent
• Adult
• Ataxia (complications, genetics)
• Dyspnea, Paroxysmal (complications, genetics)
• Family Health
• Female
• Genetic Predisposition to Disease
• Humans
• Kv1.1 Potassium Channel (genetics)
• Male
• Middle Aged
• Mutation (genetics)