Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome


Hannah Lewis, University of Arkansas for Medical Sciences
Debopam Samanta, University of Arkansas for Medical Sciences
Jenny Li Örsell, Karolinska Institutet
Katherine A. Bosanko, University of Arkansas for Medical Sciences
Amy Rowell, University of Arkansas for Medical Sciences
Melissa Jones, Houston Area Pediatric Neurology
Russell C. Dale, The University of Sydney
Sasidharan Taravath, Coastal Childrens service
Cecil D. Hahn, Hospital for Sick Children University of Toronto
Deepa Krishnakumar, Addenbrooke's Hospital
Sarah Chagnon, Children's Hospital of The King's Daughters Health System
Stephanie Keller, Emory University
Eveline Hagebeuk, Stichting Epilepsie Instellingen Nederland
Sheel Pathak, Washington University School of Medicine in St. Louis
E. Martina Bebin, The University of Alabama at Birmingham
Daniel H. Arndt, Oakland University William Beaumont School of Medicine
John J. Alexander, Seattle Children's Hospital
Gayatra Mainali, Penn State College of Medicine
Giangennaro Coppola, Università di Salerno
Jane Maclean, Palo Alto Medical Foundation
Steven Sparagana, UT Southwestern Medical Center
Nancy McNamara, C.S. Mott Children's Hospital
Douglas M. Smith, Minnesota Epilepsy Group
Víctor Raggio, Facultad de Medicina
Marcos Cruz, HighPoint Neurology Associates
Alberto Fernández-Jaén, Universidad Europea de Madrid
Maina P. Kava, Perth Children's Hospital
Lisa Emrick, Texas Children's Hospital Houston
Jennifer L. Fish, University of Massachusetts Lowell
Adeline Vanderver, The Children's Hospital of Philadelphia
Guy Helman, Murdoch Children's Research Institute
Tyler M. Pierson, Cedars-Sinai Medical Center
Yuri A. Zarate, University of Arkansas for Medical Sciences

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© 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.

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