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 language | English |
|---|---|
| Pages (from-to) | 80-7 |
| Number of pages | 8 |
| Journal | Experimental Neurology |
| Volume | 274 |
| Issue number | Pt A |
| DOIs | |
| Publication status | Published - Dec 2015 |
| Externally published | Yes |
Keywords
- Animals
- Disease Susceptibility/physiopathology
- Drosophila
- Drosophila Proteins/genetics
- Humans
- Mutation/genetics
- Seizures/genetics
- Sodium Channels/genetics