• epilepsy

Mutations in a number of Drosophila genes produce phenotypes of seizure sensitivity, including a lowered threshold to evoked electrophysiologically recorded seizure-like activity and "bang-sensitive" phenotypes. This report describes work done with the fly gene eas, which is orthologous to the ETNK1 and ETNK2 ethanolamine kinase genes in human. Ethanolamine kinase functions in the first step of the synthesis of phosphatidylethanolamine, the second-most abundant phospholipid in mammalian cells. Classical amorphic and loss-of-function alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated for Dmel\eas.

A UAS construct of the wild-type human Hsap\ETNK2 gene has been introduced into flies, but has not been characterized. The ETNK1 gene has not been introduced into flies. To date, neither human gene has been reported to be implicated in a seizure- or epilepsy-related disorder by OMIM.

In addition to seizure-sensitive phenotypes, adult flies homozygous for loss-of-function mutations of Dmel\eas exhibit defects in the heart and in heart function, and abnormalities in the mushroom body lobes of the brain. Dendrite outgrowth defects are observed in third instar larvae; similar dendrite phenotypes are observed in mutants of other genes involved in phosphatidylethanolamine synthesis. A large number of genetic interactions have been described for Dmel\eas; see the gene report for eas.

A recent study has shown that modification of the dietary medium can significantly impact the severity of the eas seizure-sensitive phenotypes.

See also the human disease model report 'cardiac arrhythmia (postulated), ETNK-related' (FBhh0000734).

[updated Apr. 2020 by FlyBase; FBrf0222196]