A number of human genes encoding subunits of potassium channels are implicated in forms of epilepsy (see, for example, MIM:616366, MIM:160120). An early Drosophila model of seizure sensitivity and epilepsy consists of a strain that carries two mutations, one in Dmel\Sh and the second in Dmel\eag. Both genes encode alpha subunits of potassium channels (see FBgg0000499).
Animals carrying mutations in both eag and Sh display neuronal hyperexcitability, seizures, and a very short life span. This system has been used to investigate the role of glial potassium buffering in seizure sensitivity.
[updated Apr. 2021 by FlyBase; FBrf0222196]
Of the many genes implicated in the development of epilepsy, most code for ion channels, including a number associated with genes encoding potassium channels. For reviews of potassium channels associated with human epilepsy and seizure disorders see Villa and Combi, 2016 (pubmed:27064559) and Kohling and Wolfart, 2016 (pubmed:27141079).
Voltage-gated potassium (Kv) channels are transmembrane channels specific for potassium, activated by changes in membrane potential; Dmel\Sh and Dmel\eag encode alpha subunits of Kv channels (FBgg0000506, FBgg0000499).
High-scoring ortholog of human KCNH1 and KCNH5 (1 Drosophila to 2 human). Dmel\eag shares 49% identity and 63% similarity with the human genes.
Moderate- to high scoring ortholog of at last 8 human genes (KCNA1 - KCNA7, KCNA10). Dmel\Shg shares 65-68% identity and 77-79% similarity with the most closely related human genes (KCNA1, KCNA2, KCNA3).
