Finalist essays from the Center for Homeland Defense and Security's First Annual Essay Competition, 2008

The Center for Homeland Defense and Security (CHDS) announces the winner and finalists of its first annual essay contest. CHDS launched the contest last year to provide people from around the country the opportunity to express their opinions on homeland security issues and to suggest new ideas. The winner and four finalists were selected from eighty contest submissions by a committee comprised of CHDS staff, faculty, and alumni. The variety of the essay topics submitted, as well as the backgrounds of the authors, highlights the vast scope of the impact that homeland security policies, programs, and challenges have on our communities and professions. This year’s contestants were asked to answer the question “What single aspect of Homeland Security has been most successful, and what single aspect will be most critical to Homeland Security success?”Naval Posgraduate School, Center for Homeland Defense and Securit

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-alpha, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients.MethodsData on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained.ResultsA cohort of 142 patients was included. Characteristics of the PURA syndrome included neonatal hypotonia, feeding difficulties, and respiratory distress. Sixty percent of the patients developed epilepsy with myoclonic, generalized tonic-clonic, focal seizures, and/or epileptic spasms. EEG showed generalized, multifocal, or focal epileptic abnormalities. Lennox-Gastaut was the most common epilepsy syndrome. Drug refractoriness was common: 33.3% achieved seizure freedom. We found 97 pathogenic variants in PURA without any clear genotype-phenotype associations.DiscussionThe PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or generalized seizures. We collected more than 90 pathogenic variants without observing overt genotype-phenotype associations