5 documents found, page 1 of 1
Síndrome de Jeavons : redes neuronais, EEG e manifestações clínicas
Borges, Daniel Filipe; Gomes, Roseli; Coelho, Paulo; Leal, Alberto
Síndrome de Landau-Kleffner com desconexão tálamo-cortical : proposta de um mec...
Borges, Daniel Filipe; Gomes, Roseli; Leal, Alberto
Miastenia Gravis
Martins, Cecília; Marques, Eduarda; Santos, Fátima; Gomes, Roseli; A. Pereira, SusanaIntrodução: A miastenia gravis é uma doença neuro-muscular com três formas de apresentação: neonatal transitória, congénita ou juvenil. O diagnóstico é sugerido pela história, exame físico, teste anti-colinesterase, electromiografia e anticorpos específicos. A imagiologia torácica pode ser importante pela associação frequente desta patologia com anomalias tímicas. O tratamento deve ser individualizado. Caso clí...
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine...
Temudo, Teresa; Santos, Mónica; Ramos, Elisabete; Dias, Karin; Vieira, José; Moreira, Ana; Calado, Eulália; Carrilho, Inês; Oliveira, GuiomarBackground: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and methods: We analyzed 87...
Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or rela...
Santos, Mónica; Temudo, Teresa; Kay, Teresa; Carrilho, Inês; Medeira, Ana; Cabral, Helena; Gomes, Roseli; Lourenço, Maria Teresa; Venâncio, MargaridaRett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that included perturbation...