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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.
Afiliação
  • Honorato MM; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo-SP, Brazil.
  • Santos ACVD; Department of Integrated Health, State University of Pará, Santarém-PA, Brazil.
  • da Silva FLL; Department of Integrated Health, State University of Pará, Santarém-PA, Brazil.
  • Cremaschi RC; Department of Integrated Health, State University of Pará, Santarém-PA, Brazil.
  • Coelho FM; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo-SP, Brazil.
J Neurosci Rural Pract ; 13(2): 348-350, 2022 Apr.
Article em En | MEDLINE | ID: mdl-35694068
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Neurosci Rural Pract Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Neurosci Rural Pract Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos