Research & Scientific Literature

Stay informed about the latest research developments and scientific discoveries related to TANC2.

Recent studies have identified TANC2 as a crucial scaffolding protein in synaptic function, with disruptions leading to hyperactivity and neurodevelopmental issues in mouse models.

Research is ongoing to better understand the mechanisms of TANC2-related disorders and develop targeted therapeutic approaches. Importantly, recent 2024 research by Iffland and colleagues has shown that mTOR pathway hyperactivation is NOT a disease mechanism in TANC2-associated epilepsy, contradicting previous hypotheses about mTOR inhibitor treatments and redirecting research toward other therapeutic targets.

Dr. Iffland has currently launched the largest patient study of TANC2 in the world. The purpose of this study is to determine how TANC2 mutations that cause epilepsy, autism, and intellectual disability, among other medical conditions, impact the ability of cells to function properly.

Individuals with ultra-rare mutations like TANC2 have few, if any, options for treatment and thus studying this population will allow us to find new targets for therapy in an underserved population. Patient data will be used to categorize and describe patient symptoms and genetic mutations and determine correlations between patient genetics and their symptoms.

Understanding how mutations impact cells

Join the international research registry to help advance our understanding of TANC2