Mechanisms underlying the EEG biomarker in Dup15q syndrome.
Joel FrohlichLawrence T ReiterVidya SaravanapandianCharlotte DiStefanoScott HubertyCarly HydeStormy ChamberlainCarrie E BeardenPeyman GolshaniAndrei IrimiaRichard W OlsenJoerg F HippShafali S JestePublished in: Molecular autism (2019)
Our results suggest a critical role for GABAergic transmission in the Dup15q syndrome beta EEG phenotype, which cannot be explained by UBE3A dysfunction alone. If this mechanism is confirmed, the phenotype may be used as a marker of GABAergic pathology in clinical trials for Dup15q syndrome.