De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes

Abstract excerpt

Genetic factors are estimated to contribute to 80% of people with epilepsy. However, only four genes were reported to be associated with temporal lobe epilepsy (TLE). This study is aimed at investigating the association between ACTB and TLE. Trio‐based exome sequencing was performed in a patient, and a de novo ACTB variant was identified. The patient presented with TLE featuring by age of onset in juvenile,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Drug Transport and Resistance Mechanisms
• Share to Epilepsy research and treatment
• Share to Genomics and Rare Diseases