Drosophila sodium channel mutations: Contributions to seizure-susceptibility

Exp Neurol. 2015 Dec;274(Pt A):80-7. doi: 10.1016/j.expneurol.2015.06.018. Epub 2015 Jun 18.

Abstract

This paper reviews Drosophila voltage-gated Na(+) channel mutations encoded by the para (paralytic) gene and their contributions to seizure disorders in the fly. Numerous mutations cause seizure-sensitivity, for example, para(bss1), with phenotypes that resemble human intractable epilepsy in some aspects. Seizure phenotypes are also seen with human GEFS+ spectrum mutations that have been knocked into the Drosophila para gene, para(GEFS+) and para(DS) alleles. Other para mutations, para(ST76) and para(JS) act as seizure-suppressor mutations reverting seizure phenotypes in other mutants. Seizure-like phenotypes are observed from mutations and other conditions that cause a persistent Na(+) current through either changes in mRNA splicing or protein structure.

Keywords: Drosophila; Epilepsy; Intractable epilepsy; Seizure-suppressor genes; Sodium channel.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Disease Susceptibility / physiopathology
  • Drosophila
  • Drosophila Proteins / genetics*
  • Humans
  • Mutation / genetics*
  • Seizures / genetics*
  • Seizures / physiopathology
  • Sodium Channels / genetics*

Substances

  • Drosophila Proteins
  • Sodium Channels