Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Declan GallagherEduardo Pérez-PalmaTobias BruengerIsmael GhantyEva BrilstraBerten CeulemansNicole ChemalyIris M de LangeChristel DepienneRenzo GuerriniDavide MeiRikke Steensjerre MollerRima NabboutBrigid M ReganAmy L SchneiderIngrid Eileen SchefferAn-Sofie SchoonjansJoseph D SymondsSarah WeckhuysenSameer M ZuberiDennis LalAndreas BrunklausPublished in: Epilepsia (2024)
Understanding genotype-phenotype associations in SCN1A-related epilepsies is critical for early diagnosis and management. We demonstrate an earlier disease onset in patients with missense variants in important functional regions, the occurrence of GEFS+ truncating variants, and the value of in silico prediction scores. Status epilepticus as initial seizure type is a highly specific, but not sensitive, early feature of DS.