Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

Hannah Lewis¹, Debopam Samanta², Jenny-Li Örsell³, Katherine A Bosanko⁴, Amy Rowell⁵, Melissa Jones⁶, Russell C Dale⁷, Sasidharan Taravath⁸, Cecil D Hahn⁹, Deepa Krishnakumar¹⁰, Sarah Chagnon¹¹, Stephanie Keller¹², Eveline Hagebeuk¹³, Sheel Pathak¹⁴, E Martina Bebin¹⁵, Daniel H Arndt¹⁶, John J Alexander¹⁷, Gayatra Mainali¹⁸, Giangennaro Coppola¹⁹, Jane Maclean²⁰, Steven Sparagana²¹, Nancy McNamara²², Douglas M Smith²³, Víctor Raggio²⁴, Marcos Cruz²⁵, Alberto Fernández-Jaén²⁶, Maina P Kava²⁷, Lisa Emrick²⁸, Jennifer L Fish²⁹, Adeline Vanderver³⁰, Guy Helman³¹, Tyler M Pierson³², Yuri A Zarate³³

Affiliations

¹ University of Arkansas for Medical Sciences School of Medicine, Little Rock, Arkansas.
² Section of Child Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
³ Division of Psychology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
⁴ Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
⁵ Department of Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
⁶ Houston Area Pediatric Neurology, Houston, Texas.
⁷ Kids Neuroscience Centre, Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Australia.
⁸ Department of Pediatric Neurology, Coastal Childrens service, Wilmington, North Carolina.
⁹ Division of Neurology, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.
¹⁰ Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge, UK.
¹¹ Division of Child and Adolescent Neurology, Children's Hospital of the Kings Daughters, Norfolk, Virginia.
¹² Division of Pediatric Neurology, Department of Pediatrics, Emory University, Atlanta, Georgia.
¹³ Stichting Epilepsie Instellingen Nederland (SEIN) Zwolle, the Netherlands.
¹⁴ Division of Pediatric and Developmental Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri.
¹⁵ Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama.
¹⁶ Division of Pediatric Neurology, Department of Pediatrics, Beaumont Children's, Oakland University William Beaumont School of Medicine, Royal Oak, Michigan.
¹⁷ Division of Neurology, Seattle Children's Hospital, Seattle, Washington.
¹⁸ Division of Pediatric Neurology, Penn State College of Medicine, Hershey, Pennsylvania.
¹⁹ Department of Medicine, Surgery and Dentistry, Child and Adolescent Neuropsychiatry, University of Salerno, Italy.
²⁰ Pediatric Neurology, Palo Alto medical foundation, San Jose, California.
²¹ Department of Neurology, Texas Scottish Rite Hospital for Children and University of Texas Southwestern Medical Center, Dallas, Texas.
²² Division of Child Neurology, Department of Pediatrics, Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan.
²³ Minnesota Epilepsy Group, Saint Paul, Minnesota.
²⁴ Departamento de Genética, Facultad de Medicina, Udelar, Uruguay.
²⁵ HighPoint Neurology Associates, Hendersonville, Tennessee.
²⁶ Department of Pediatric Neurology, Hospital Universitario Quirónsalud and Universidad Europea de Madrid, Madrid, Spain.
²⁷ Department of Neurology, Perth Children's Hospital, Western Australia, Australia; School of Paediatrics and Child Health, University of Western Australia, Australia.
²⁸ Department of Pediatrics, Section of Neurology and Developmental Neuroscience, and Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.
²⁹ Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.
³⁰ Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
³¹ Murdoch Children's Research Institute, The Royal Children's Hospital, Victoria, Australia; Institute for Molecular Bioscience, The University of Queensland, Queensland, Australia.
³² Departments of Pediatrics and Neurology & The Board of Governors Regenerative Medicine Institute, Cedars Sinai Medical Center, Los Angeles, California.
³³ Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas. Electronic address: yazarate@uams.edu.

PMID: 32446642
PMCID: PMC11348677
DOI: 10.1016/j.pediatrneurol.2020.04.006

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

Hannah Lewis et al. Pediatr Neurol. 2020 Nov.

. 2020 Nov:112:94-100.

doi: 10.1016/j.pediatrneurol.2020.04.006. Epub 2020 Apr 13.

Authors

Affiliations

¹ University of Arkansas for Medical Sciences School of Medicine, Little Rock, Arkansas.
² Section of Child Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
³ Division of Psychology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
⁴ Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
⁵ Department of Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
⁶ Houston Area Pediatric Neurology, Houston, Texas.
⁷ Kids Neuroscience Centre, Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Australia.
⁸ Department of Pediatric Neurology, Coastal Childrens service, Wilmington, North Carolina.
⁹ Division of Neurology, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.
¹⁰ Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge, UK.
¹¹ Division of Child and Adolescent Neurology, Children's Hospital of the Kings Daughters, Norfolk, Virginia.
¹² Division of Pediatric Neurology, Department of Pediatrics, Emory University, Atlanta, Georgia.
¹³ Stichting Epilepsie Instellingen Nederland (SEIN) Zwolle, the Netherlands.
¹⁴ Division of Pediatric and Developmental Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri.
¹⁵ Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama.
¹⁶ Division of Pediatric Neurology, Department of Pediatrics, Beaumont Children's, Oakland University William Beaumont School of Medicine, Royal Oak, Michigan.
¹⁷ Division of Neurology, Seattle Children's Hospital, Seattle, Washington.
¹⁸ Division of Pediatric Neurology, Penn State College of Medicine, Hershey, Pennsylvania.
¹⁹ Department of Medicine, Surgery and Dentistry, Child and Adolescent Neuropsychiatry, University of Salerno, Italy.
²⁰ Pediatric Neurology, Palo Alto medical foundation, San Jose, California.
²¹ Department of Neurology, Texas Scottish Rite Hospital for Children and University of Texas Southwestern Medical Center, Dallas, Texas.
²² Division of Child Neurology, Department of Pediatrics, Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan.
²³ Minnesota Epilepsy Group, Saint Paul, Minnesota.
²⁴ Departamento de Genética, Facultad de Medicina, Udelar, Uruguay.
²⁵ HighPoint Neurology Associates, Hendersonville, Tennessee.
²⁶ Department of Pediatric Neurology, Hospital Universitario Quirónsalud and Universidad Europea de Madrid, Madrid, Spain.
²⁷ Department of Neurology, Perth Children's Hospital, Western Australia, Australia; School of Paediatrics and Child Health, University of Western Australia, Australia.
²⁸ Department of Pediatrics, Section of Neurology and Developmental Neuroscience, and Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.
²⁹ Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.
³⁰ Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
³¹ Murdoch Children's Research Institute, The Royal Children's Hospital, Victoria, Australia; Institute for Molecular Bioscience, The University of Queensland, Queensland, Australia.
³² Departments of Pediatrics and Neurology & The Board of Governors Regenerative Medicine Institute, Cedars Sinai Medical Center, Los Angeles, California.
³³ Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas. Electronic address: yazarate@uams.edu.

PMID: 32446642
PMCID: PMC11348677
DOI: 10.1016/j.pediatrneurol.2020.04.006

Abstract

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.

Keywords: Electroencephalography; Epilepsy; Glass syndrome; SATB2; Seizure semiology.

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Conflict of interest statement

Conflicts of interest: None of the authors have any conflicts of interest to disclose related to this work.

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References

1. Bengani H, Handley M, Alvi M, et al. Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genet Med. 2017;19:900–908. - PMC - PubMed
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Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

Affiliations

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

MeSH terms

Substances

Grants and funding

LinkOut - more resources

Full Text Sources

Medical