KBG syndrome mimicking genetic generalized epilepsy
- PMID: 35573061
- PMCID: PMC9092988
- DOI: 10.1016/j.ebr.2022.100545
KBG syndrome mimicking genetic generalized epilepsy
Abstract
•Several conditions may mimic Genetic Generalized Epilepsy GGE.•GGE is less frequently misdiagnosed compared to other subtypes of epilepsy.•KBG syndrome is a rare autosomal dominant condition.•KBG syndrome may mimic GGE.
© 2022 The Authors.
Conflict of interest statement
The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
Figures
References
-
- Morel Swols D, Tekin M. KBG Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle, Copyright © 1993-2021, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993.
-
- Medlineplus.gov. KBG Syndrome. In: Genetics M, editor. Genetics Home Reference. 2021 ed. Webpage: Medlineplus.gov; 2021. p. Online database.
-
- Herrmann J., Pallister P.D., Tiddy W., Opitz J.M. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser. 1975;11:7–18. - PubMed
-
- Lo-Castro A., Brancati F., Digilio M.C., Garaci F.G., Bollero P., Alfieri P., et al. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. Am J Med Genet B Neuropsychiatr Genet. 2013;162(1):17–23. - PubMed
Publication types
LinkOut - more resources
Full Text Sources