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.

Original languageEnglish
Pages (from-to)80-7
Number of pages8
JournalExperimental Neurology
Volume274
Issue numberPt A
DOIs
Publication statusPublished - Dec 2015
Externally publishedYes

Keywords

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

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