Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Hannah StambergerDavid CrosiersGanna BalaguraClaudia Maria BonardiAnna BasuGaetano CantalupoValentina ChiesaJakob ChristensenBernardo Dalla BernardinaColin A EllisFrancesca FuriaFiona GardinerCamille GironRenzo GuerriniKarl Martin KleinChristian KorffHana KrijtovaMelanie LefflerHolger LercheGaetan LescaDavid Lewis-SmithCarla MariniDragan MarjanovicLaure MazzolaSarah McKeown RuggieroFanny MochelFrancis RamondPhilipp S ReifAurélie Richard-MornasFelix RosenowChristian SchroppRhys Huw ThomasAglaia VignoliYvonne WeberEmma Elizabeth PalmerIngo HelbigIngrid Eileen SchefferPasquale StrianoRikke Steensjerre MollerElena GardellaSarah WeckhuysenPublished in: Neurology (2022)
STXBP1-DEE warrants continuous monitoring for seizures in adult life. Periods of regression are more frequent than previously established and can occur into adulthood. Movement disorders are often present and involve multiple systems. Although functional mobility is variable in adulthood, STXBP1-DEE frequently leads to severe cognitive impairments and a high level of functional dependence. Understanding the natural history of STXBP1-DEE is important for prognostication and will inform future therapeutic trials.