2 documents found, page 1 of 1
Complex interactions between p.His558Arg and linked variants in the sodium volt...
Lopes-Marques, Mónica; Silva, Raquel; Serrano, Catarina; Gomes, Verónica; Cardoso, Ana; Prata, Maria João; Amorim, António; Azevedo, LuísaCommon genetic polymorphisms may modify the phenotypic outcome when co-occurring with a disease-causing variant, and therefore understanding their modulating role in health and disease is of great importance. The polymorphic p.His558Arg variant of the sodium voltage-gated channel alpha subunit 5 (NaV1.5) encoded by the SCN5A gene is a case in point, as several studies have shown it can modify the clinical pheno...
Essential genetic findings in neurodevelopmental disorders
Cardoso, Ana R.; Lopes-Marques, Mónica; Silva, Raquel M.; Serrano, Catarina; Amorim, António; Prata, Maria J.; Azevedo, LuísaNeurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture that embraces genetic mutations of distinct types (chromosomal rearrangements, copy number variants, small indels, and nucleotide substitutions) with distinct frequencies in the population (common, rare, d...