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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Alison M MuirJennifer F GardnerRichard H van JaarsveldIris M de LangeJasper J van der SmagtGolder N WilsonHolly DubbsEthan M GoldbergLia ZitanoCaleb BuppJose MartinezMyriam SrourAndrea AccogliAfnan AlhakeemMeira MeltzerAndrea GropmanCarole BrewerRichard C CaswellTara MontgomeryCaoimhe McKennaShane McKeeCorinna PowellPradeep C VasudevanAngela F BradyShelagh JossCarolyn TysoeGrace NohMark TarnopolskyLauren BradyMuhammad ZafarSamantha A Schrier VerganoBrianna MurrayLindsey SawyerBryan E HainlineKatherine SappDanielle DeMarzoDarcy J HuismannIngrid M WentzensenRhonda E SchnurKristin G MonaghanJane JuusolaLindsay RhodesWilliam B DobynsFrancois LecoquierreAlice GoldenbergTilman PolsterSusanne Axer-SchaeferKonrad PlatzerChiara KlöcknerTrevor L HoffmanDaniel G MacArthurMelanie C O'LearyGrace E VanNoyEleina EnglandVinod C VargheseHeather C Mefford
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
This collaboration establishes GNAI1 variants as a cause of NDDs. GNAI1-related NDD is most often characterized by severe to profound delays, hypotonia, epilepsy that ranges from self-limiting to intractable, behavior problems, and variable mild dysmorphic features.
Keyphrases
  • copy number
  • mental health
  • intellectual disability
  • case report
  • gene expression
  • autism spectrum disorder
  • dna methylation
  • temporal lobe epilepsy