DLG4-related synaptopathy: a new rare brain disorder.
Agustí Rodríguez-PalmeroMelissa Maria BoerrigterDavid Gómez-AndrésKimberly A AldingerÍñigo Marcos-AlcaldeBernt PoppDavid B EvermanAlysia Kern LovgrenStephanie ArpinVahid BahrambeigiGea BeundersAnne-Marie BisgaardV A BjerregaardAnge-Line BruelThomas D ChallmanBenjamin CognéChristine CoubesStella A de ManAnne-Sophie Denommé-PichonThomas J DyeFrances ElmslieLars FeukSixto García-MiñaúrTracy GertlerElisa GiorgioNicolas GruchyTobias B HaackChad R Haldeman-EnglertBjørn Ivar HaukanesJuliane HoyerAnna C E HurstBertrand IsidorMaria Johansson SollerSulagna KusharyMalin KvarnungYuval E LandauKathleen A LeppigAnna LindstrandLotte KleinendorstAlex MacKenzieGiorgia MandrileBryce A MendelsohnSetareh MoghadasiJenny E MortonSebastien MouttonAmelie J MüllerMelanie O'LearyMarta Pacio-MíguezMaria Palomares-BraloSumit ParikhRolph PfundtBen Pode-ShakkedAnita RauchElena RepnikovaAnya Revah-PolitiMeredith J RossClaudia A L RuivenkampElisabeth SarrazinJuliann M SavattAgatha SchlüterBitten Schönewolf-GreulichZohra ShadCharles Shaw-SmithJoseph T ShiehMotti ShohatStephanie SprangerHeidi ThieseFrederic Tran Mau-ThemBregje van BonIneke van de BurgtIngrid M B H van de LaarEsmée van DrieMieke M van HaelstConny M van Ravenswaaij-ArtsEdgard VerduraAntonio VitobelloStephan WaldmüllerSharon WhitingChristiane ZweierCarlos E PradaBert B A de VriesWilliam B DobynsSimone F ReiterPaulino Gómez-PuertasAurora PujolZeynep TümerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
The present study shows that clinical manifestations associated with DLG4 overlap with those found in other neurodevelopmental disorders of synaptic dysfunction; thus, we designate this group of disorders as DLG4-related synaptopathy.