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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Veröffentlicht in:Journal of neurosciences in rural practice 2022-04, Vol.13 (2), p.348-350, Article 348
Hauptverfasser: Honorato, Marcos Manoel, Santos, Adriane Cristina Vieira Dos, da Silva, Felipe Luan Lima, Cremaschi, Renata Carvalho, Coelho, Fernando Morgadinho
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Sprache:eng
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Zusammenfassung: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.
ISSN:0976-3147
0976-3155
DOI:10.1055/s-0042-1743457