Heterozygote Autosomal Dominant Mutation of STXBP1-Gene Inducing Encephalopathy with Global Developmental Delay, Atactic Movement Disorder and Focal Seizures in A 2-Years Old Boy | Biomedgrid

Heterozygote autosomal dominant mutation of STXBP1-gene induces global developmental delay and atactic movement disorder with focal seizures in a 2-years old boy. To date, only around 200 cases are known in world medical literature. The mutation and the outcome of children with this unusual mutation of STXBP1-gene in a 2 years old young boy in our department was the occasion to make a short comment.