Modelling helps to identify a rare childhood neurological disorder caused by missense mutations of SynGAP1 protein
Abstract
A research project led by Pekka Postila models the effects of missense mutations on the structure and function of the SynGAP1 protein. Malfunction of this protein causes a variety of symptoms such as severe intellectual disability, epilepsy, and autism. The research work demands a meticulous approach, a great deal of patience and enormous computational power.
Fields of Study & Subjects
Genomics and Rare Diseases
Genetics and Neurodevelopmental Disorders
Protein Structure and Dynamics
Publication details
- Journal / source
- Zenodo (CERN European Organization for Nuclear Research)
- Publication date
- 27 February 2026
- Language
- EN