This website provides information on patients with mutations in the AP4E1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the AP4E1 gene is a disorder characterized by post-natal microcephaly, early-onset developmental delay, intellectual disability, epilepsy and progressive spasticity. Over time, the majority of patients become non-ambulatory. In some patients, spasticity may progress to involve the upper extremities, resulting in a spastic tetraplegia. Associated complications include dysphagia, contractures, foot deformities, dysregulation of bladder and bowel function, and a pseudobulbar affect.

Not all individuals with mutations in the AP4E1 gene have these features.

This website was created to share and collect information about the clinical features, management and research projects for patients with mutations in the AP4E1 gene.

Darius Ebrahimi-Fakhari, MD, PhD, Department of Neurology, Boston Children’s Hospital, Boston, USA, darius.ebrahimi-fakhari@childrens.harvard.edu