Clinical Deep Phenotyping of Mutation Carriers.

Background And Objectives: Putative loss-of-function (pLOF) variants that increase Alzheimer disease (AD) risk were identified; however, deep phenotypic characterization of these variants in mutation carriers is limited. We aimed to obtain deep clinical phenotypes of pLOF mutation carriers from a large retrospectively reviewed series.

Methods: Genotypes were determined for 5,353 individuals evaluated at Mayo Clinic for 6 reported pLOF variants (p.

Brain-responsive neurostimulation in adult-onset rasmussen's encephalitis.

Epilepsy associated with Rasmussen's encephalitis (RE) is highly resistant to standard therapy and continues to present a therapeutic challenge. While epilepsy surgery remains the most effective management for patients with drug-resistant focal epilepsy and RE, hemispherotomy may debilitating consequences on adult patients. Here we present the outcome of a 32-year-old woman with adult-onset Rasmussen's, who was treated with brain-responsive neurostimulation (RNS) after failure of several immunotherapeutic and anti-seizure medications.