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Article

A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 10 Oct 2012

Sun Lei, Gilligan Jeff, Staber Cynthia, Schutte Ryan J, Nguyen Vivian, O'Dowd Diane K, Reenan Robert

Abstract excerpt

Over 40 missense mutations in the human SCN1A sodium channel gene are linked to an epilepsy syndrome termed genetic epilepsy with febrile seizures plus (GEFS+). Inheritance of GEFS+ is dominant, but the underlying cellular mechanisms remain poorly understood. Here we report that knock-in of a GEFS+ SCN1A mutation (K1270T) into the Drosophila sodium channel gene, para, causes a semidominant temperature-induced...

Topics

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Animals, Genetically Modified
Epilepsy
Epilepsy, Generalized
Gene Knock-In Techniques
Hot Temperature

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

NAV1.1 Voltage-Gated Sodium Channel

Seizures, Febrile

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Identifiers

PMID: 23055484
DOI: 10.1523/JNEUROSCI.2932-12.2012
PMCID: PMC3482260

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