Publications by authors named "A Hedrera-Fernandez"
Article Synopsis
- GRIN-related disorders are rare developmental conditions in children caused by genetic variants, which often lead to various cognitive and behavioral challenges with few treatment options available.
- A non-randomized phase 2A trial tested L-serine as a potential treatment for these disorders in children aged 2-18, measuring its safety and efficacy over a 52-week period using several behavioral and cognitive assessment tools.
- Twenty-four participants were included in the study, showing improvements in specific skill areas, particularly in children with milder impairments, demonstrating promise for L-serine as a therapeutic option for those with GRIN genetic variants.
Article Synopsis
- A study explored the effectiveness of using short-read and long-read genome sequencing to identify genetic causes of neurodevelopmental disorders (NDDs) in individuals who previously did not receive a genetic diagnosis.
- The research involved 692 individuals, finding causal variants in 36% of affected individuals and uncertain variants in another 23%.
- Long-read sequencing proved beneficial for resolving complex structural variants and improving the overall understanding of genetic contributions to NDDs.
Article Synopsis
- - Limb-girdle muscular dystrophies (LGMD) include various genetic muscle disorders, and the TRAPPC11-related LGMD R18 is noted for causing muscle weakness and intellectual disability, particularly in Roma individuals due to a specific genetic variant.
- - A study of 25 Roma individuals revealed that the c.1287+5G>A variant results in early muscle weakness and intellectual challenges, along with almost universal microcephaly and potential seizures triggered by early-life infections.
- - Findings suggest that the genetic variant not only affects muscle function but also disrupts mitochondrial health, revealing insights into its impact on energy production and cellular structure in affected individuals.
Introduction: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy.
View Article and Find Full Text PDFBackground: GRIN-related disorders (GRD), the so-called grinpathies, is a group of rare encephalopathies caused by mutations affecting genes (mostly , and genes), which encode for the GluN subunit of the -methyl D-aspartate (NMDA) type ionotropic glutamate receptors. A growing number of functional studies indicate that GRIN-encoded GluN1 subunit disturbances can be dichotomically classified into gain- and loss-of-function, although intermediate complex scenarios are often present.
Methods: In this study, we aimed to delineate the structural and functional alterations of disease-associated variants, and their correlations with clinical symptoms in a Spanish cohort of 15 paediatric encephalopathy patients harbouring these variants.