Publications by authors named "R G Kuperman"

Childhood absence epilepsy is one of the most prevalent pediatric epilepsy syndromes, but diagnostic delay is common and consequential. Childhood absence epilepsy is diagnosed by history and physical examination including hyperventilation with electroencephalography (EEG) used to confirm the diagnosis. Hyperventilation produces generalized spike-wave discharges on EEG in >90% of patients with childhood absence epilepsy and provokes clinical absence seizures consisting of brief loss of consciousness typically within 90 seconds.

View Article and Find Full Text PDF
Article Synopsis
  • The study assessed the effectiveness of exome sequencing (ES) in diagnosing genetic disorders among pediatric and prenatal patients, particularly focusing on underrepresented minority (URM) and underserved (US) populations.
  • The diagnostic yield was found to be 23.8%, with a higher success rate in pediatric patients (26.7%) compared to prenatal patients (19.0%).
  • The results indicated no significant differences in diagnostic yield or inconclusive findings between URM/US and non-URM/non-US patients, highlighting ES's potential for diverse populations.
View Article and Find Full Text PDF