Publications by authors named "S Hernandez-Muela"
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFBackground/objectives: Developmental and epileptic encephalopathy 9 (DEE9) (MIM #300088) affects heterozygous females and males with somatic pathogenic variants, while male carriers with hemizygous pathogenic variants are clinically unaffected. There are hundreds of pathogenic single nucleotide variants in the gene reported in the literature, which lead to the loss of function of the PCDH19 protein. To date, no phenotypes associated with overexpression or copy number gains have been described in this gene.
View Article and Find Full Text PDFArticle Synopsis
- Germline variants in the phosphatidylinositol glycan class A gene lead to MCAHS2, a syndrome marked by multiple congenital anomalies, seizures, and hypotonia, inherited in an X-linked recessive manner.
- A case study presents a male infant with MCAHS2 due to a novel variant from his mother, who exhibited a non-skewed pattern of X-chromosome inactivation, which is uncommon in typical cases.
- The study suggests using flow-cytometry tests to assess GPI-anchored protein expression, particularly CD16, in neutrophils of carrier mothers with random X-inactivation to better understand the pathogenic implications of gene variants affecting GPI-APs.
Introduction: Apart from its functions involving control over movement, the cerebellum is also related to learning motor sequences and, according to the experimental and clinical evidence we will examine, to cognitive and learning processes that do not exclusively involve motor activity.
Development: The cerebrocerebellar connections act as a vehicle for the afferent information from the sensory-motor cortex, prefrontal cortex, the frontal regions responsible for (expressive) language, parietal cortex, superior colliculus and superior temporal cortex, returning efferences to similar areas that are responsible for attention, visuospatial perception, memory and the regulation of executive and emotional functions. It plays a role in the preparation and anticipation of motor responses, according to sequences experienced previously depending on the information received from the surroundings, thus anticipating the physiological state for carrying out perceptual motor or cognitive tasks.