Referenced in: none

Automatically associated channels: Kv1.1

Title: Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.

Authors: Steven J Shook, Hafsa Mamsa, Joanna C Jen, Robert W Baloh, Lan Zhou

Journal, date & volume: Muscle Nerve, 2008 Mar , 37, 399-402

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/17912752

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.