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Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
Hannah Lewis1, Debopam Samanta2, Jenny-Li Örsell3
1University of Arkansas for Medical Sciences School of Medicine, Little Rock, Arkansas.
Pediatric Neurology
|May 25, 2020
Summary
Epileptiform abnormalities are common in SATB2-associated syndrome. Electroencephalography, especially during sleep, is recommended for early detection and management of seizures in these individuals.
Area of Science:
- Neurology
- Genetics
- Epileptology
Background:
- Seizures are an under-recognized aspect of SATB2-associated syndrome.
- This study focuses on electroencephalographic (EEG) findings, seizure types, and treatment in this population.
Purpose of the Study:
- To characterize EEG abnormalities and seizure semiology in individuals with SATB2-associated syndrome.
- To evaluate treatment responses and neuroimaging findings in relation to seizures.
Main Methods:
- Retrospective review of 101 individuals with SATB2-associated syndrome and prior EEG studies.
- Supplemental caregiver surveys and neurologist input were obtained.
Main Results:
- 41 subjects (41%) had abnormal EEGs, with 93% showing epileptiform discharges, often centrally located.
- Seizures were diagnosed in 42% of subjects, with focal seizures being most common.
- Delayed myelination or white matter changes were observed in 61% of individuals.
Conclusions:
- Epileptiform abnormalities are frequent in SATB2-associated syndrome.
- Baseline EEG, including sleep, is recommended for all individuals with SATB2-associated syndrome for early epilepsy detection.
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