GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yongjin YooJane JungYoo-Na LeeYoungha LeeHyosuk ChoEunjung NaJeaYeok HongEunjin KimJin Sook LeeJe Sang LeeChansik HongSang-Yoon ParkJinhong WieKathryn MillerNatasha ShurCheryl ClowRoseànne S EbelSuzanne D DeBrosseLindsay B HendersonRebecca WillaertChristopher CastaldiIrina TikhonovaKaya BilgüvarShrikant ManeKi Joong KimYong Seung HwangSeok-Geun LeeInsuk SoByung Chan LimHee-Jung ChoiJae Young SeongYong Beom ShinHosung JungJong-Hee ChaeMurim ChoiPublished in: Annals of neurology (2017)
GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. GABBR2-mediated γ-aminobutyric acid signaling is a crucial factor in determining the severity and nature of neurodevelopmental phenotypes. Ann Neurol 2017;82:466-478.