SYNGAP1-ассоциированная эпилептическая энцефалопатия развития

A rare infantile epilepsy syndrome characterized by developmental delay or regression, intellectual disability, and epilepsy, which may present as eyelid myoclonia with absences, atypical and typical absences, myoclonic, atonic, myoclonic-atonic, or unclassified drop attacks, tonic-clonic seizures, or reflex seizures mostly triggered by eating. In some patients the eyelid myoclonia evolves to a drop attack. Other common features include behavioral problems, high pain threshold, hypotonia, eating and sleeping problems, autism spectrum disorder, and ataxia or gait abnormalities.