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Abstract

Journal of Neurosciences in Rural Practice. 2022 Apr; 13(2): 348-50.
doi  10.1055/s-0042-1743457
PMID 35694068

Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters.

Honorato, Marcos Manoel Santos, Adriane Cristina Vieira dos da Silva, Felipe Luan Lima Cremaschi, Renata Carvalho Coelho, Fernando Morgadinho

Abstract


Our study reports two nontwin sisters with late-onset Lennox-Gastaut syndrome and chromosome 15q duplication, showing the evolution, symptoms, diagnosis, and treatment of these patients, with the aim of increasing knowledge about this extremely rare association. They had a variety of generalized seizures types, intellectual disability, electroencephalogram with generalized epileptiform discharges less than 3Hz, dysmorphisms, and genetic studies with the presence of duplicated chromosome 15. Cases reported here may be related to chromosomal changes inherited from their asymptomatic mother.

Copyright

Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-Non Derivative-Non Commercial License, permitting copying and reproduction so long as the original work is given appropriate credit.

Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.

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