De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Chiara KlöcknerHeinrich StichtPia ZacherBernt PoppHolly E BabcockDewi P BakkerKaty BarwickMichaela V BonfertCarsten G BönnemannEva H Brilstranull nullWendy K ChungAngus J ClarkePatrick DevineSandra DonkervoortJamie L FraserJennifer FriedmanAlyssa GatesJamal GhoumidEmma HobsonGabriella HorvathJennifer Keller-RameyBoris KerenManju A KurianVirgina LeeKathleen A LeppigJohan LundgrenMarie T McDonaldHeather M McLaughlinAmy McTagueHeather C MeffordCyril MignotMohamad A MikatiCaroline NavaF Lucy RaymondJulian R SampsonAlba Sanchis-JuanVandana ShashiJoseph T C ShiehMarwan ShinawiAnne SlavotinekTommy StödbergNicholas StongJennifer A SullivanAshley C TaylorTomi L TolerMarie-José van den BoogaardSaskia N van der CrabbenKoen L I van GassenRichard H van JaarsveldJessica Van ZiffleAlexandrea F WadleyMatias WagnerKristen WigbySaskia B WortmannYuri A ZarateRikke S MøllerJohannes R LemkeKonrad PlatzerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
We provide a comprehensive description of SNAP25-DEE with intellectual disability and early-onset epilepsy mostly occurring before the age of two years. These core symptoms and additional recurrent phenotypes show an overlap to genes encoding other components or associated proteins of the SNARE complex such as STX1B, STXBP1, or VAMP2. Thus, these findings advance the concept of a group of neurodevelopmental disorders that may be termed "SNAREopathies."