Published in Epilepsia Open, the study establishes audiogenic seizure susceptibility as a highly penetrant phenotype in Cdkl5 knockout mice.
Sensory-triggered seizures are a well-documented clinical feature of CDD, but had never been examined in the mouse model. Jordan Higgins and Samuel Egan, co-first authors, exposed Cdkl5 knockout, heterozygous and wildtype littermates to audiogenic challenges. Male knockout mice developed severe seizures, while heterozygous females were largely resistant. Chronic video-EEG monitoring also detected spontaneous seizures in a subset of knockout animals.
The result provides a rapid, translationally relevant screen for evaluating therapies that aim to prevent seizures in CDD.