SLC25A22-related epileptic syndrome is a rare autosomal recessive disease described in 21 patients from 12 independent families (sept. 2022). This syndrome is characterized by an early onset epilepsy, from birth to 2 months of age, 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.
SLC25A22