NDLI: Drosophila as a Model for Epilepsy: bss Is a Gain-of-Function Mutation in the Para Sodium Channel Gene That Leads to Seizures

Content Provider	PubMed Central
Author	Parker, Louise Padilla, Miguel Du, Yuzhe Dong, Ke Tanouye, Mark A.
Copyright Year	2011
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+ (NaV) 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 NaV fourth homology domain. Heterologous expression of cDNAs containing the bss1 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 NaV SCN1A, such as severe myoclonic epilepsy in infants or intractable childhood epilepsy with generalized tonic-clonic seizures.
Related Links	http://dx.doi.org/10.1534/genetics.110.123299
Ending Page	534
Page Count	12
Starting Page	523
File Format	PDF
ISSN	00166731
e-ISSN	19432631
Journal	Genetics
Issue Number	2
Volume Number	187
Language	English
Publisher	Genetics Society of America
Publisher Date	2011-02-01
Access Restriction	Open
Rights Holder	Genetics Society of America
Subject Keyword	Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics

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