title: Drosophila sodium channel mutations: Contributions to seizure-susceptibility.
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.
authors.affiliation: Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720, USA.
authors.forename: Jason R
authors.initials: JR
authors.lastname: Kroll
authors.affiliation: Department of Environmental Science, Policy and Management, University of California, Berkeley, CA 94720, USA.
authors.forename: Arunesh
authors.initials: A
authors.lastname: Saras
authors.affiliation: Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720, USA; Department of Environmental Science, Policy and Management, University of California, Berkeley, CA 94720, USA. Electronic address: tanouye@berkeley.edu.
authors.forename: Mark A
authors.initials: MA
authors.lastname: Tanouye
mesh_terms: D000818:Animals; D004198:Disease Susceptibility / Q000503:physiopathology; D004330:Drosophila; D029721:Drosophila Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D012640:Seizures / Q000235:genetics* / Q000503:physiopathology; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D029721:Drosophila Proteins; D015222:Sodium Channels
keywords: Drosophila; Epilepsy; Intractable epilepsy; Seizure-suppressor genes; Sodium channel