2 documents found, page 1 of 1
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without ...
Fernández-Marmiesse, A.; Roca, I.; Díaz-Flores, F.; Cantarín, V.; Pérez-Poyato, M.; Fontalba, A.; Laranjeira, Francisco; Quintans, S.; Moldovan, O.In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and...
Assessment of a targeted resequencing assay as a support tool in the diagnosis ...
Fernández-Marmiesse, A.; Morey, M.; Pineda, M.; Eiris, J.; Couce, M.; Castro-Gago, M.; Fraga, J.; Lacerda, L.; Gouveia, S.; Pérez-Poyato, M.BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Develo...