Modelling helps to identify a rare childhood neurological disorder caused by missense mutations of SynGAP1 protein

The figure panels show, from left to right, how a pathogenic missense mutation alters the structure of the SynGAP1 proteinA 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, … Continue reading Modelling helps to identify a rare childhood neurological disorder caused by missense mutations of SynGAP1 protein