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

Marcos Manoel HonoratoAdriane Cristina Vieira Dos SantosFelipe Luan Lima da SilvaRenata Maria de Carvalho CremaschiFernando Morgadinho Dos Santos Coelho
Published in: Journal of neurosciences in rural practice (2022)
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.
Keyphrases
  • late onset
  • intellectual disability
  • copy number
  • early onset
  • autism spectrum disorder
  • case report
  • genome wide
  • healthcare
  • emergency department
  • dna methylation
  • depressive symptoms
  • case control
  • adverse drug