Tag: STXBP1 gene mutation

Megalencephaly N: A Novel Mutation in the STXBP1 Gene Megalencephaly N (MEGN) is a rare congenital disorder characterized by an enlarged head size and neurological deficits. It is caused by a mutation in the STXBP1 gene which encodes a synaptic protein. The condition is associated with a wide range of clinical features, including intellectual disability, […]