GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant

Alexander disease (AxD) is a rare autosomal dominant disorder due to GFAP mutations; infantile AxD is the most common severe form which usually results in death. In this study, phenotype and genotype analysis of all reported cases with IAxD are reported as well as a de novo variant.We conduct a comprehensive review on all reported Infantile AxD due to GFAP mutation. Clinical data and genetics of the reported patients were analyzed. Clinical...