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

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 sei...

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Autores principales: Honorato, Marcos Manoel, Santos, Adriane Cristina Vieira dos, da Silva, Felipe Luan Lima, Cremaschi, Renata Carvalho, Coelho, Fernando Morgadinho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical and Scientific Publishers Pvt. Ltd. 2022
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9187365/
https://www.ncbi.nlm.nih.gov/pubmed/35694068
http://dx.doi.org/10.1055/s-0042-1743457
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author Honorato, Marcos Manoel
Santos, Adriane Cristina Vieira dos
da Silva, Felipe Luan Lima
Cremaschi, Renata Carvalho
Coelho, Fernando Morgadinho
author_facet Honorato, Marcos Manoel
Santos, Adriane Cristina Vieira dos
da Silva, Felipe Luan Lima
Cremaschi, Renata Carvalho
Coelho, Fernando Morgadinho
author_sort Honorato, Marcos Manoel
collection PubMed
description 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 3 Hz, 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.
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spelling pubmed-91873652022-06-11 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 J Neurosci Rural Pract 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 3 Hz, 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. Thieme Medical and Scientific Publishers Pvt. Ltd. 2022-03-08 /pmc/articles/PMC9187365/ /pubmed/35694068 http://dx.doi.org/10.1055/s-0042-1743457 Text en Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial 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/ ) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 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.
spellingShingle Honorato, Marcos Manoel
Santos, Adriane Cristina Vieira dos
da Silva, Felipe Luan Lima
Cremaschi, Renata Carvalho
Coelho, Fernando Morgadinho
Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters
title Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters
title_full Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters
title_fullStr Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters
title_full_unstemmed Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters
title_short Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters
title_sort late-onset lennox-gastaut syndrome with chromosome 15q duplication in sisters
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9187365/
https://www.ncbi.nlm.nih.gov/pubmed/35694068
http://dx.doi.org/10.1055/s-0042-1743457
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