Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea

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

Research output: Contribution to journalArticle

24 Scopus citations


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 languageEnglish (US)
Pages (from-to)399-402
Number of pages4
JournalMuscle and Nerve
Issue number3
StatePublished - Mar 1 2008



  • Episodic ataxia type 1
  • Genetics
  • Ion channel gene mutation
  • KCNA1
  • Myokymia
  • Respiratory muscles
  • Rippling muscles

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

Cite this

Shook, S. J., Mamsa, H., Jen, J. C., Baloh, R. W., & Zhou, L. (2008). Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea. Muscle and Nerve, 37(3), 399-402.