Charles N Swisher
Charles N Swisher
Investigators from Erlangen, Germany; Calgary, CA; and Kafranbel, Syria, identified mutations in the gene, fatty acyl-CoA reductase 1 (FAR1) deficiency, adding to three other genes involved in plasmalogen biosynthesis, in two families affec...
Vamshi K Rao,Nancy L Kuntz
Vamshi K Rao
Investigators from Johns Hopkins Hospital, Baltimore, MD, retrospectively reviewed 179 records of patients with Duchenne muscular dystrophy (DMD) evaluated between 1989 and 2012. Diagnosis was confirmed by genetic testing or muscle biopsy, ...
Jena M Krueger,Douglas R Nordli Jr
Jena M Krueger
Investigators from the Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago IL and the Yale School of Medicine, New Haven, CT have conducted a prospective cohort study of 613 children with newly diagnosed epilepsy to evaluate the...
John J Millichap,J Gordon Millichap
John J Millichap
Investigators from the University of Alabama, Birmingham, AL, and University of Michigan, Ann Arbor, MI, report 2 children who presented with FIRES and prolonged AED-resistant status epilepticus. ...
John J Millichap,J Gordon Millichap
John J Millichap
Pediatric Neurology Briefs (PNB) has been published monthly since 1987 as a continuing education service designed to expedite and facilitate review of current medical literature concerning pediatric neurology. In 2015, PNB is relaunched as ...