The Epilepsy Phenotype of ST3GAL3-related Developmental and Epileptic Encephalopathy.
Robyn WhitneyPuneet JainRajesh RamachandranNairKevin C JonesHassan KianiMark TarnopolskyBrandon MeaneyPublished in: Epilepsia open (2023)
Seizures related to ST3GAL3-related DEE often occur in infancy and may present as epileptic spasms. However, seizure onset may also occur outside of infancy with mixed seizure types and show good response to treatment with prolonged seizure freedom. Tremor may also be uniquely observed in this condition.