Publications by authors named "Joana Larupa Santos"
Background And Objectives: Pathogenic variants in , encoding for the proline-rich transmembrane protein 2, were identified as the main cause of self-limiting sporadic and familial infantile epilepsy. Reported data on treatment response to antiseizure medications (ASMs) in defined monogenic epilepsies are limited. The aim of this study was to evaluate the treatment response of ASMs in children with monogenic -associated infantile epilepsy.
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- - Atrial Fibrillation (AF) is a common heart condition that leads to significant health issues, but its complex causes are still not well understood, making treatment difficult.
- - Researchers conducted whole exome sequencing in a large family with familial AF and discovered a rare genetic variant in the gene c.5053G > A that is linked to the condition.
- - The identified variant leads to a loss-of-function in a protein important for neuronal function, suggesting a new connection between ion channel dysfunction and the risk of developing AF.
Pathogenic variants in , encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed at delineating the broad clinical spectrum of PRRT2-associated phenotypes in these children and their relatives. Only a few recent larger cohort studies are on record and findings from single reports were not confirmed so far.
View Article and Find Full Text PDFBackground: Atrial fibrillation (AF) is predicted to affect around 17.9 million individuals in Europe by 2060. The disease is associated with severe electrical and structural remodelling of the heart, and increased the risk of stroke and heart failure.
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- * The mutation leads to a nonfunctional ClC-2 chloride channel due to a frame-shift and early stop codon, which impairs its ability to conduct electrical current in heart cells.
- * Experiments show that this genetic variation reduces current flow by 50% when combined with normal ClC-2, indicating a connection between the loss of ClC-2 function and higher AF risk.
Background: Evidence has emerged that small-conductance Ca-activated K (SK) channels constitute a new target for treatment of atrial fibrillation (AF). SK channels are predominantly expressed in the atria as compared with the ventricles. Various marketed antiarrhythmic drugs are limited by ventricular adverse effects and efficacy loss as AF progresses.
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