Drosophila sodium channel mutations: Contributions to seizure-susceptibility

作者：Kroll Jason R; Saras Arunesh; Tanouye Mark A^*

来源：Experimental Neurology, 2015, 274: 80-87.

DOI：10.1016/j.expneurol.2015.06.018

• Drosophila
• Epilepsy
• Intractable epilepsy
• Sodium channel
• Seizure-suppressor genes

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 pares(DS) alleles. Other para mutations, para(ST76) and para(JS) act as seizure-suppressor mutations reverting seizure phenotypes in other mutants. Seizure-lilce phenotypes are observed from mutations and other conditions that cause a persistent Na+ current through either changes in mRNA splicing or protein structure.

• 出版日期2015-12