Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

Hannah Lewis, Debopam Samanta, Jenny Li Örsell, Katherine A. Bosanko, Amy Rowell, Melissa Jones, Russell C. Dale, Sasidharan Taravath, Cecil D. Hahn, Deepa Krishnakumar, Sarah Chagnon, Stephanie Keller, Eveline Hagebeuk, Sheel Pathak, E. Martina Bebin, Daniel H. Arndt, John J. Alexander, Gayatra Mainali, Giangennaro Coppola, Jane MacleanSteven Sparagana, Nancy McNamara, Douglas M. Smith, Víctor Raggio, Marcos Cruz, Alberto Fernández-Jaén, Maina P. Kava, Lisa Emrick, Jennifer L. Fish, Adeline Vanderver, Guy Helman, Tyler M. Pierson, Yuri A. Zarate

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)94-100
Number of pages7
JournalPediatric Neurology
StatePublished - Nov 2020

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology


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