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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Quentin ThomasThierry GautierDana MarafiThomas BesnardMarjolaine WillemsSébastien MouttonBertand IsidorBenjamin CognéSolène ConradRomano TenconiMaria IasconeArthur SorlinAlice MasurelTabib DabirAdam JacksonSiddharth BankaJulian DelanneJames R LupskiNebal Waill SaadiFowzan S AlkurayaFatema Al ZahraniPankaj B AgrawalEleina EnglandJill A MaddenJennifer E PoseyLydie BurglenDiana RodriguezMartin ChevarinSylvie NguyenFrédéric Tran Mau-ThemYannis DuffourdPhilippine GarretAnge-Line BruelPatrick CallierNathalie MarleAnne-Sophie Denomme-PichonLaurence DuplombChristophe PhilippeChristel Thauvin-RobinetJérôme GovinLaurence FaivreAntonio Vitobello
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
We provide evidence that loss-of-function variants in ARFGEF1 are implicated in sporadic and familial cases of developmental delay with or without epilepsy.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • late onset
  • early onset
  • copy number
  • temporal lobe epilepsy
  • gene expression
  • dna methylation