Background: Gliomas are the most common malignant primary brain tumor. Genomic characterization is necessary for diagnosis and treatment decisions, for which the brain is biopsied and can lead to delays in care, morbidity, and mortality. Here, we...
Background: Alternating hemiplegia of childhood (AHC) is a rare condition most frequently caused by mutations in ATP1A3, encoding for the alpha-3 subunit of Na+/K+-ATPase, and D801N is the most common variant. Individuals with ATP1A3-D801N have shorter...