Ataxia, arrhythmia and ion-channel gene defects

Johannah L. Doyle, Lisa Stubbs

Research output: Contribution to journalReview articlepeer-review


Ion channels are essential to a wide range of physiological functions including neuronal signaling, muscle contraction, cardiac pacemaking, hormone secretion and cell proliferation. The important role that highly regulated ion influx plays in these processes has been underscored by a recent flurry of discoveries linking ion-channel gene mutations to inherited disorders. Ion channels of many different types have been demonstrated as being causative factors in genetic disease. This review discusses the growing number of disorders associated with genes of the voltage-gated ion channel superfamily, with special focus on those characterized by neurological, neuromuscular, or cardiac dysfunction in humans and mice.

Original languageEnglish (US)
Pages (from-to)92-98
Number of pages7
JournalTrends in Genetics
Issue number3
StatePublished - Mar 1 1998
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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