Browsing by Author "Lopes, Sofia"
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- Genomic imbalances defining novel intellectual disability associated lociPublication . Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, Joaquim; Oliveira, Guiomar; Sá, Maria João; Temudo, Teresa; Sousa, Susana; Marques, Carla; Lopes, Sofia; Gomes, Catarina; Barros, Gisela; Jorge, Arminda; Rocha, Felisbela; Martins, Cecília; Mesquita, Sandra; Loureiro, Susana; Cardoso, Elisa Maria; Cálix, Maria José; Dias, Andreia; Martins, Cristina; Mota, Céu R; Antunes, Diana; Dupont, Juliette; Figueiredo, Sara; Figueiroa, Sónia; Gama-de-Sousa, Susana; Cruz, Sara; Sampaio, Adriana; Eijk, Paul; Weiss, Marjan M; Ylstra, Bauke; Rendeiro, Paula; Tavares, Purificação; Reis-Lima, Margarida; Pinto-Basto, Jorge; Fortuna, Ana Maria; Maciel, PatríciaBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID). Results: We have detected CNVs in 30.1% of the patients, of which 5.2% corresponded to novel likely pathogenic CNVs. For these 11 rare CNVs (which encompass novel ID candidate genes), we identified those most likely to be relevant, and established genotype-phenotype correlations based on detailed clinical assessment. In the case of duplications, we performed expression analysis to assess the impact of the rearrangement. Interestingly, these novel candidate genes belong to known ID-related pathways. Within the 8% of patients with CNVs in known pathogenic loci, the majority had a clinical presentation fitting the phenotype(s) described in the literature, with a few interesting exceptions that are discussed. Conclusions: Identification of such rare CNVs (some of which reported for the first time in ID patients/families) contributes to our understanding of the etiology of ID and for the ever-improving diagnosis of this group of patients.
- Language regression as a manifestation of epilepsyPublication . Ferreira, Joana; Lopes, Sofia; Carmona Lopes, José; Ferreira, Cristina; Magalhães, CatarinaIntroduction: Childhood epileptic encephalopathies are age-dependent brain disorders in which ictal and interictal epileptogenic activity is the apparent cause of progressive cognitive and neuro-psychological impairment. Case report: A previously healthy four-year-old boy presented to the Emergency Department with a history of receptive and expressive language regression with four days of evolution, associated with seizure onset. Clinical features and electroencephalographic findings led to diagnosis of Landau-Kleffner syndrome. The boy was treated with valproate, clobazam, and prednisolone, with language improvement. Discussion/Conclusion: Landau-Kleffner syndrome is a rare epileptic encephalopathy with pathognomonic sudden aphasia, epilepsy, and paroxysmal electroencephalographic abnormalities. The condition should be suspected in children with normal development who show a deterioration of established language skills. Early diagnosis and treatment are important to improve outcome.