Drosophilasodium channel mutations: Contributions to seizure-susceptibility

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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, parabss1, 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, paraGEFS+ and paraDS alleles. Other para mutations, paraST76 and paraJS 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.

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