Reference Report

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. (Export to RIS)
FlyBase ID	FBrf0213034
Publication Type	Research paper
PubMed ID	21115970
PubMed 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.
DOI	10.1534/genetics.110.123299
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Language of Publication	English
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Parent Publication
Publication Type	Journal
Abbreviation	Genetics
Title	Genetics
Publication Year	1916-
ISBN/ISSN	0016-6731
Data from Reference
Aberrations (5)
	Df(1)4b18 Df(1)19 Df(1)r-D1 Dp(1;2)r⁺75c Dp(1;4)r⁺l
Alleles (14)
	eas² para^bss1:EY08038 para^bss1 para^bss2 para^EY08038 para^GD3392 para^{L1699F.Scer\UAS.1-1} para^Scer\UAS.1-1 Scer\GAL4^elav.PLu Scer\GAL4^elav-C155 Scer\GAL4^insc-Mz1407 sda^iso7.8 tipE¹ w^+mC
Constructs (4)
	P{GAL4-elav.L} P{GD3392} P{UAS-para.1-1.L1699F} P{UAS-para.1-1}
Genes (8)
	Cnx14D eas para Rbp2 Scer\GAL4 sda tipE w
Insertions (4)
	P{EPgy2}para^EY08038 P{EPgy2}Rbp2^EY00852 P{GawB}elav^C155 P{GawB}insc^Mz1407
Natural transposons (1)
	P-element