US cost-effectiveness analysis of apixaban compared with warfarin, dabigatran and rivaroxaban for nonvalvular atrial fibrillation, focusing on equal value of life years and health years in total.

Warfarin and direct-acting oral anticoagulants (DOACs) are widely prescribed to patients with nonvalvular atrial fibrillation (NVAF) to reduce risk of stroke and systemic embolism (SE). This study aimed to assess the cost-effectiveness of apixaban compared with warfarin, dabigatran and rivaroxaban, for patients with NVAF from a US healthcare payer (Medicare) perspective. A cohort-level Markov model was developed based on a previously published model, for the US setting, factoring in anticipated price decreases due to market entry of generic drugs.

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

Background: Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A (GABA) receptor, can result in a diverse range of conditions, ranging from febrile seizures to severe developmental and epileptic encephalopathies. However, the mechanisms underlying the risk of developing milder vs more severe forms of disorder remain unclear. In this study, we conducted a comprehensive genotype-phenotype correlation analysis in a cohort of individuals with GABRB2 variants.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Objective: DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1-related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34 patients harboring de novo DYNC1H1 pathogenic variants, identify subphenotypes on the DYNC1H1-related epilepsy spectrum, and compare the genotype-phenotype correlations observed in our cohort with the literature.

Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions.

PURA is mapped to chromosome 5q31 and plays a vital role in neuronal development and synapse formation. Here, we aim to explore PURA's impact on cognitive development and epilepsy phenotype by comparing patients with single nucleotide variants (SNPs) in the PURA gene (PURA-SNP patients) to those with 5q31 microdeletions including PURA (5q31del + PURA) and those with 5q31 microdeletions not including the PURA gene (5q31del-PURA). A systematic literature search was conducted in PubMed.