Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

Autor: Víctor Raggio, Debopam Samanta, Jennifer L. Fish, Melissa Jones, Jenny Li Örsell, Steven Sparagana, Yuri A. Zarate, Daniel H. Arndt, Russell C. Dale, Marcos Cruz, Guy Helman, Eveline Hagebeuk, Katherine A. Bosanko, Lisa Emrick, Gayatra Mainali, Sarah L. Chagnon, Alberto Fernández-Jaén, Adeline Vanderver, Stephanie Keller, John J. Alexander, Hannah Elisabeth Smashey Lewis, Sheel Pathak, Maina P. Kava, Sasidharan Taravath, Giangennaro Coppola, Deepa Krishnakumar, Douglas M. Smith, Jane Maclean, E. Martina Bebin, Cecil D. Hahn, Nancy A. McNamara, Amy C. Rowell, Tyler Mark Pierson
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Male
Pediatrics
Genética humana
Electroencephalography
Epilepsy
0302 clinical medicine
Age of Onset
Child
Seizure semiology
education.field_of_study
Sleep Stages
medicine.diagnostic_test
Glass syndrome
Syndrome
Neurology
Child
Preschool

Female
Electroencefalografía
Adult
Sleep Wake Disorders
medicine.medical_specialty
Adolescent
Delayed myelination
Population
SATB2
Nervous System Malformations
Epilepsia
Osteogénesis
Young Adult
03 medical and health sciences
Developmental Neuroscience
Neuroimaging
030225 pediatrics
medicine
Investigación sobre el cerebro
Humans
education
Retrospective Studies
business.industry
Genetic Diseases
Inborn

Infant
Matrix Attachment Region Binding Proteins
medicine.disease
Hyperintensity
Pediatrics
Perinatology and Child Health

Neurology (clinical)
business
030217 neurology & neurosurgery
Transcription Factors
Popis: 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. Sin financiación 3.372 JCR (2020) Q1, 25/129 Pediatrics 0.902 SJR (2020) Q1, 59/301 Pediatrics, Perinatology and Child Health No data IDR 2020 UEM
Databáze: OpenAIRE