Excess EEG beta-band oscillations in Dup15q syndrome correlate with clinical severity - PubMed
3 hours ago
- #Dup15q syndrome
- #EEG beta-band oscillations
- #GABA-A receptor
- Dup15q syndrome is a rare genetic neurodevelopmental disorder caused by copy number gains of chromosome 15q11.2-q13.1, involving genes like UBE3A and GABA-A receptor subunits.
- Excess EEG beta-band power (16-32 Hz) is a characteristic electrophysiological phenotype in Dup15q syndrome, linked to increased GABA-A receptor activity and considered a potential biomarker.
- A study of 52 children with Dup15q syndrome and 14 typically developing children used a method called locally referenced power (LRPβ) to isolate beta-band oscillations from EEG background.
- LRPβ was significantly elevated in Dup15q syndrome compared to controls, with a large effect size (Hedges' g = +1.84).
- In individuals without epilepsy history, higher LRPβ correlated with lower cognitive ability (developmental quotient) and lower adaptive functioning scores, indicating a link to clinical severity.
- The findings suggest that excess GABA-A receptor function plays a key role in Dup15q syndrome pathophysiology and support EEG beta-band power as a relevant biomarker.