This website provides information on patients with mutations in the ARV1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ARV1 gene is called Developmental and epileptic encephalopathy-38 (DEE38). This multisystem disorder is characterized by early onset of epilepsy, failure to thrive, hypotonia, global development delay, nystagmus and visual impairment. Not all individuals with a mutation in the ARV1 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 ARV1 gene.
Philippe Campeau, MD, Principal Investigator, CHU Sainte Justine, Mother and Child University Hospital, Montreal, Canada, email@example.com
Farhad Abbasi, MD, CHU Sainte Justine, Mother and Child University Hospital, Montreal, Canada, firstname.lastname@example.org