Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
© 2020 Elsevier Inc. Background: Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome. Methods: We performed a retrospective review of 101 individuals with SATB2-associated syndrome who were reported to have had a previous electroencephalographic study to identify those who had at least one reported abnormal result. For completeness, a supplemental survey was distributed to the caregivers and input from the treating neurologist was obtained whenever possible. Results: Forty-one subjects were identified as having at least one prior abnormal electroencephalography. Thirty-eight individuals (93%) had epileptiform discharges, 28 (74%) with central localization. Sleep stages were included as part of the electroencephalographies performed in 31 individuals (76%), and epileptiform activity was recorded during sleep in all instances (100%). Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six subjects with definite clinical seizures needed polytherapy (35%). Delayed myelination and/or abnormal white matter hyperintensities were seen on neuroimaging in 19 individuals (61%). Conclusions: Epileptiform abnormalities are commonly seen in individuals with SATB2-associated syndrome. A baseline electroencephalography that preferably includes sleep stages is recommended during the initial evaluation of all individuals with SATB2-associated syndrome, regardless of clinical suspicion of epilepsy.
Lewis, Hannah; Samanta, Debopam; Örsell, Jenny Li; Bosanko, Katherine A.; Rowell, Amy; Jones, Melissa; Dale, Russell C.; Taravath, Sasidharan; Hahn, Cecil D.; Krishnakumar, Deepa; Chagnon, Sarah; Keller, Stephanie; Hagebeuk, Eveline; Pathak, Sheel; Bebin, E. Martina; Arndt, Daniel H.; Alexander, John J.; Mainali, Gayatra; Coppola, Giangennaro; Maclean, Jane; Sparagana, Steven; McNamara, Nancy; Smith, Douglas M.; Raggio, Víctor; Cruz, Marcos; Fernández-Jaén, Alberto; Kava, Maina P.; Emrick, Lisa; Fish, Jennifer L.; Vanderver, Adeline; Helman, Guy; Pierson, Tyler M.; and Zarate, Yuri A., "Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome" (2020). Articles. 1.