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Saras, A., Tanouye, M.A. (2016). Mutations of the Calcium Channel Gene cacophony Suppress Seizures in Drosophila.  PLoS Genet. 12(1): e1005784.
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Research paper

Bang sensitive (BS) Drosophila mutants display characteristic seizure-like phenotypes resembling, in some aspects, those of human seizure disorders such as epilepsy. The BS mutant parabss1, caused by a gain-of-function mutation of the voltage-gated Na+ channel gene, is extremely seizure-sensitive with phenotypes that have proven difficult to ameliorate by anti-epileptic drug feeding or by seizure-suppressor mutation. It has been presented as a model for intractable human epilepsy. Here we show that cacophony (cacTS2), a mutation of the Drosophila presynaptic Ca++ channel α1 subunit gene, is a particularly potent seizure-suppressor mutation, reverting seizure-like phenotypes for parabss1 and other BS mutants. Seizure-like phenotypes for parabss1 may be suppressed by as much as 90% in double mutant combinations with cacTS2. Unexpectedly, we find that parabss1 also reciprocally suppresses cacTS2 seizure-like phenotypes. The cacTS2 mutant displays these seizure-like behaviors and spontaneous high-frequency action potential firing transiently after exposure to high temperature. We find that this seizure-like behavior in cacTS2 is ameliorated by 85% in double mutant combinations with parabss1.

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PubMed Central ID
PMC4714812 (PMC) (EuropePMC)
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Correction: Mutations of the Calcium Channel Gene cacophony Suppress Seizures in Drosophila.
PLOS Genetics Staff, 2016, PLoS Genet. 12(2): e1005871 [FBrf0230955]

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    Publication Type
    PLoS Genet.
    PLoS Genetics
    Publication Year
    1553-7404 1553-7390
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    Alleles (8)
    Gene Groups (1)
    Genes (5)
    Human Disease Models (3)
    Insertions (1)
    Transgenic Constructs (3)