Schedule of Events | Symposia

Spindles in Patients with Dravet Syndrome

Poster Session A - Saturday, March 29, 2025, 3:00 – 5:00 pm EDT, Back Bay Ballroom/Republic Ballroom

Joanne Hall¹ (hall.joa@northeastern.edu), Mathew Yarossi², Alexander Rotenberg³; ¹Northeastern University, ²Harvard University

Introduction: Dravet Syndrome (DS) is an epileptic encephalopathy caused primarily by haploinsufficiency of the SCN1A gene, disrupting fast-firing GABAergic inhibitory interneuron signaling, potentially leading to seizures, cognitive delays, and motor impairments. Studying sleep microarchitecture (vital for neurodevelopment), offers potential for identifying early-life biomarkers. Sleep spindles - rhythmic bursts of activity during NREM sleep – may reflect sensory-motor integration (particularly fast spindles, ~12.5-16 Hz), memory consolidation, and neural plasticity. Methods: EEG data of patients with DS and age-matched controls were band-pass filtered in the sigma range from 9-16 Hz. Stage 2 NREM sleep was analyzed for spindle duration, Intrinsic spindle frequency (Hz) (via FFT), temporal overlap (spindle-event co-occurrence) and frontal hemispheric synchronization using the Phase Lag Index (PLI). Spearman correlations analyzed relationships to age, from 0-12 years. Results: Patients with DS showed faster frontal/central 10-15 Hz spindle frequencies than controls for the FFT (p = .02). For other metrics, controls showed significantly higher values; For frontal spindle-event temporal overlap, controls showed significantly more co-occurrence (p = 0.001) that strongly correlated with age (r = .78, p = .02), longer spindle duration (p = .005), and stronger frontal PLI values (p = .004). Conclusions: The results suggest N2 sleep spindle deficits may reflect impaired inhibitory signaling in networks crucial for synchronization and information processing during sleep. Full spindle activity supports higher-order integration of daily events, while deficient spindles links to cognitive and sensory disability. These metrics could serve as biomarkers for interventions targeting intellectual/cognitive function (slow spindles) and sensory-motor integration (fast spindles).

Topic Area: EXECUTIVE PROCESSES: Development &aging