• developmental and epileptic encephalopathy 14

This report describes developmental and epileptic encephalopathy 14 (DEE14), one of several epileptic diseases associated with defects in the human gene KCNT1. DEE14 exhibits autosomal dominant inheritance. KCNT1 encodes an outwardly rectifying potassium channel subunit. There is a single orthologous gene in Drosophila, SLO2, which is also orthologous to human KCNT2.

UAS constructs of the human Hsap\KCNT1 gene have been introduced into flies, including wild-type and variants implicated in human disease; see the 'Disease-Implicated Variants' table below. Using a pan-neuronal drivers, expression of each of the disease-implicated variants results in embryonic lethality; expression restricted to GABAergic neurons results in viable adults that exhibit a seizure phenotype. This system has been used to assess epilepsy drugs most commonly administered to patients with KCNT1-epilepsy.

For information on disease-related studies using the fly SLO2 gene, see human disease model report for seizure-sensitive, potassium channel defects, KCNT1-2-related (FBhh0001405). A complete table of KCNT1 disease-implicated variants studied in flies can be found in that report.

[updated Mar. 2024 by FlyBase; FBrf0222196]