This website provides information on patients with mutations in the SLC25A22 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SLC25A22 gene is an autosomal recessive multisystem disorder characterized by Early onset epilepsy, intellectual disability, hypotonia and a poor diagnosis. The epileptic syndrome could vary from myoclonic seizures to partial migrating seizures. The associated EEG pattern could be suppression burst or multifocal epileptic abnormalities.
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 SLC25A22 gene.
Florence Molinari, PhD, INSERM, Marseille, France, Florence.firstname.lastname@example.org