This website provides information on patients with pathogenic variants in the AP3B2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the AP3B2 gene is a neurological disorder (referred to as Early-onset epileptic encephalopathy 48) characterized by:
• Epileptic encephalopathy
• Seizures, refractory
• (neuro-)developmental delay
• Inability to sit or walk
• Lack of speech
• Sleep disorder
Not all individuals with a pathogenic variant in the AP3B2 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the AP3B2 gene.
Maxi Leona Wiese, Graduate Student, Department of Pediatrics, University of Cologne, Cologne, Germany, firstname.lastname@example.org
Hormos Dafsari, MD, Department of Pediatrics, University of Cologne, Cologne, Germany, Hormos.Dafsari@uk-koeln.de