Age-Related Increase of Delta Power in SLC6A1-NDD: Unveiling an EEG Biomarker for a Rare Genetic Epilepsy
Abstract number :
3.428
Submission category :
3. Neurophysiology / 3C. Other Clinical EEG
Year :
2023
Submission ID :
1412
Source :
www.aesnet.org
Presentation date :
12/4/2023 12:00:00 AM
Published date :
Authors :
Presenting Author: Kimberly Goodspeed, MD, MSCS – University of Texas Southwestern Medical Center
Hamza Dahshi, BS – University of Texas Southwestern Medical Center; Deepa Sirsi, MD – Associate Professor, Pediatrics, University of Texas Southwestern Medical Center; Marie Varnet, MD – Resident, Pediatrics, University of Texas Southwestern Medical Center
Rationale: SLC6A1 Neurodevelopmental Disorder (SLC6A1-NDD) is a rising cause of epilepsy with myoclonic atonic seizures (EMAtS), absence seizures, and autism. SLC6A1 haploinsufficiency reduces GABA reuptake from the synaptic cleft by impairing function of GABA-Transport Type 1. Patients present with developmental delay, hypotonia, staring spells in infancy, and EMAtS in early childhood. Here, we present a potential EEG biomarker of rhythmic delta activity and 3 Hz delta power in SLC6A1-NDD that changes with age.
Methods: We reviewed records from SLC6A1-NDD patients specialty clinic and natural history study (NHS). NHS participants undergo an annual four hour video EEG using the standard clinical 10-20 system. We extracted EEG findings from clinical reports. We used EEGLAB to conduct power spectral analysis of NHS EEGs with a focus on delta power at 3 Hz frequency. We used student’s paired t-test to compare mean delta power between probands and age-matched controls using all channel spectra data.
Results: We reviewed 172 EEG reports from 33 SLC6A1-NDD patients (M15:F18) and performed spectral analysis on EEGs from 20 probands and age-matched controls. The age at clinical EEG ranged from six months to 23 years. Qualitative EEG analysis revealed high voltage rhythmic delta patterns in occipital, temporal and frontal regions and was substantiated by delta power analysis. Spectral analysis revealed a significantly elevated mean delta power in probands (19.4 ± 4.1) compared to age-matched controls (14.2 ± 3.0) (p< 0.0001).
Neurophysiology