Dissecting the Aristaless-related Homeobox Epilepsy path to find druggable target molecules

Aristaless-related homeobox (ARX) is a crucial transcription factor involved in several interneuronopathies, including infantile spasms (ISSX1) and West Syndrome. Its polyAlanine motifs are hot spots for elongations, frequently found in kids affected by malignant Epilepsy with limited therapeutic options. Although in the last years several medical therapies have been tested to prevent epilepsy in West syndrome patients, an effective treatment is still needed. Noteworthy, the early onset of infantile spams followed by developmental delay and poor seizure control make these patients at high risk for suddenly unexpected death (SUDEP). The overall objectives of our project were to study Aristaless-related Homeobox Epilepsy models with the final goal of identifying druggable target molecules.