Clinical utility of exome sequencing in a pediatric epilepsy cohort
Sign Up to like & getrecommendations! Published in 2023 at "Epilepsia"
DOI: 10.1111/epi.17534
Abstract: Exome sequencing (ES) has played an important role in the identification of causative variants for individuals with epilepsy and has proven to be a valuable diagnostic tool. Less is known about its clinical utility once… read more here.
Keywords: clinical utility; exome sequencing; epilepsy cohort; pediatric epilepsy ... See more keywords
Editors' Note: Identification and Characterization of Pure Sleep Epilepsy in a Cohort of Patients With a First Seizure
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201431
Abstract: In “Identification and Characterization of Pure Sleep Epilepsy In a Cohort of Patients With a First Seizure,” Pang et al. studied 239 adults with first unprovoked seizure during sleep and found that while one-third had… read more here.
Keywords: seizure; epilepsy cohort; pure sleep; characterization pure ... See more keywords