Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with diverse epilepsy subtypes and 33,444 controls, to investigate rare variants that confer disease risk. These analyses implicate seven individual genes, three gene sets, and four copy number variants at exome-wide significance.

Genetic variation in predicts phenytoin-induced maculopapular exanthema in European-descent patients.

Objective: To characterize, among European and Han Chinese populations, the genetic predictors of maculopapular exanthema (MPE), a cutaneous adverse drug reaction common to antiepileptic drugs.

Methods: We conducted a case-control genome-wide association study of autosomal genotypes, including Class I and II human leukocyte antigen (HLA) alleles, in 323 cases and 1,321 drug-tolerant controls from epilepsy cohorts of northern European and Han Chinese descent. Results from each cohort were meta-analyzed.

Effect of patient handling education on radiation therapy students.

Objective: To assess the influence of an educational intervention on the knowledge, attitude, behavior and intention to use safe patient handling and movement (SPHM) of radiation therapy students during their initial clinical education experience.

Method: Seventeen first-year students in a 2-year radiation therapy baccalaureate program received education on traditional manual patient handling and SPHM through 2 1-hour lectures and a 2-hour skills laboratory. Questionnaires and a group discussion were used to collect data on the students' knowledge, attitude, behavior and intention to use SPHM in clinical practice.