Journal article
A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy
KB Howell, S Eggers, K Dalziel, J Riseley, S Mandelstam, CT Myers, JM McMahon, A Schneider, GL Carvill, HC Mefford, IE Scheffer, AS Harvey, J Archer, SF Berkovic, EK Chan, M Corbett, G Dabscheck, M Fahey, JL Freeman, J Gecz Show all
Epilepsia | WILEY | Published : 2018
DOI: 10.1111/epi.14087
Abstract
Objective: The severe epilepsies of infancy (SEI) are a devastating group of disorders that pose a major care and economic burden on society; early diagnosis is critical for optimal management. This study sought to determine the incidence and etiologies of SEI, and model the yield and cost-effectiveness of early genetic testing. Methods: A population-based study was undertaken of the incidence, etiologies, and cost-effectiveness of a whole exome sequencing–based gene panel (targeted WES) in infants with SEI born during 2011-2013, identified through electroencephalography (EEG) and neonatal databases. SEI was defined as seizure onset before age 18 months, frequent seizures, epileptiform EEG, ..
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Awarded by National Institutes of Health