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Reference
Citation
Parker, L., Padilla, M., Du, Y., Dong, K., Tanouye, M.A. (2011). Drosophila as a Model for Epilepsy: bss Is a Gain-of-Function Mutation in the Para Sodium Channel Gene That Leads to Seizures.  Genetics 187(2): 523--534.
FlyBase ID
FBrf0213034
Publication Type
Research paper
Abstract

We report the identification of bang senseless (bss), a Drosophila melanogaster mutant exhibiting seizure-like behaviors, as an allele of the paralytic (para) voltage-gated Na(+) (Na(V)) channel gene. Mutants are more prone to seizure episodes than normal flies because of a lowered seizure threshold. The bss phenotypes are due to a missense mutation in a segment previously implicated in inactivation, termed the "paddle motif" of the Na(V) fourth homology domain. Heterologous expression of cDNAs containing the bss(1) lesion, followed by electrophysiology, shows that mutant channels display altered voltage dependence of inactivation compared to wild type. The phenotypes of bss are the most severe of the bang-sensitive mutants in Drosophila and can be ameliorated, but not suppressed, by treatment with anti-epileptic drugs. As such, bss-associated seizures resemble those of pharmacologically resistant epilepsies caused by mutation of the human Na(V) SCN1A, such as severe myoclonic epilepsy in infants or intractable childhood epilepsy with generalized tonic-clonic seizures.

PubMed ID
PubMed Central ID
PMC3030494 (PMC) (EuropePMC)
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Secondary IDs
    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    Genetics
    Title
    Genetics
    Publication Year
    1916-
    ISBN/ISSN
    0016-6731
    Data From Reference
    Aberrations (5)
    Alleles (14)
    Genes (8)
    Human Disease Models (1)
    Natural transposons (1)
    Insertions (4)
    Experimental Tools (1)
    Transgenic Constructs (4)