Publications by authors named "Sarah E McKeown"
Article Synopsis
- SPTBN1 gene encodes βII-spectrin, crucial for forming networks at plasma membranes, and its deficiency in mice leads to significant neurodevelopmental issues.
- Heterozygous variants of SPTBN1 were identified in 29 individuals exhibiting a range of developmental challenges, including intellectual disabilities, language delays, and autistic features.
- These variants weaken βII-spectrin stability and disrupt cellular organization, establishing SPTBN1 as a key contributor to certain neurodevelopmental syndromes.
While genetic studies of epilepsies can be performed in thousands of individuals, phenotyping remains a manual, non-scalable task. A particular challenge is capturing the evolution of complex phenotypes with age. Here, we present a novel approach, applying phenotypic similarity analysis to a total of 3251 patient-years of longitudinal electronic medical record data from a previously reported cohort of 658 individuals with genetic epilepsies.
View Article and Find Full Text PDFAn amendment to this paper has been published and can be accessed via a link at the top of the paper.
View Article and Find Full Text PDFArticle Synopsis
- More than 100 genetic causes have been identified in developmental and epileptic encephalopathies (DEEs), but linking these genetic factors to clinical symptoms has been challenging due to the complexity of clinical data.
- Researchers analyzed data from 846 individuals to find connections between specific genes and clinical features using Human Phenotype Ontology (HPO), identifying significant associations for genes like SCN1A and STXBP1 with specific seizure types and speech delays.
- The study found that using a semantic similarity approach helps in distinguishing unique phenotypic profiles for various genetic causes, improving the understanding of genetic epilepsies and offering a new way to support evidence of disease causation based on phenotypic analysis.
Article Synopsis
- This study investigates the genetic factors contributing to childhood epilepsies and examines longitudinal data from electronic medical records (EMR) to analyze these conditions over time.
- By mapping neurological diagnoses to standardized terminology and tracking patient encounters, researchers observed the associations between specific genes and epilepsy-related symptoms.
- The findings suggest that EMR data can effectively reveal significant gene-phenotype connections and may improve future clinical decision-making and outcome studies.