Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies.

ABSTRACT: Genetic epilepsies are a spectrum of disorders characterized by spontaneous and recurrent seizures that can arise from an array of inherited or de novo genetic variants and disrupt normal brain development or neuronal connectivity and function. Genetically determined epilepsies, many of which are due to monogenic pathogenic variants, can result in early mortality and may present in isolation or be accompanied by neurodevelopmental disability. Despite the availability of more than 20 antiseizure medications, many patients with epilepsy fail to achieve seizure control with current therapies. Patients with refractory epilepsy-particularly of childhood onset-experience increased risk for severe disability and premature death. Further, available medications inadequately address the comorbid dev

SUBMITTER: Goodspeed K 

PROVIDER: S-EPMC9284605 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature