{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Berg AT"],"funding":["NINDS NIH HHS"],"pagination":["863-871"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5710404"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["171(9)"],"pubmed_abstract":["<h4>Importance</h4>Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of these epilepsies is not established.<h4>Objective</h4>To provide a contemporary account of the patterns of use and diagnostic yield of genetic testing for early-life epilepsies.<h4>Design, setting, and participants</h4>In this prospective cohort, children with newly diagnosed epilepsy with an onset at less than 3 years of age were recruited from March 1, 2012, to April 30, 2015, from 17 US pediatric hospitals and followed up for 1 year. Of 795 families approached, 775 agreed to participate. Clinical diagnosis of the etiology of epilepsy were characterized based on information av"],"journal":["JAMA pediatrics"],"pubmed_title":["Early-Life Epilepsies and the Emerging Role of Genetic Testing."],"pmcid":["PMC5710404"],"funding_grant_id":["K23 NS092923","R21 NS094999","R01 NS092772","R01 NS073768","K12 NS066274"],"pubmed_authors":["Saneto RP","Knupp KG","Kossoff EH","Novotny EJ","Koh S","Gaillard WD","Shellhaas RA","Ryan N","Kekis M","Dobyns WB","Grinspan ZM","Berg AT","Alexander JJ","Coryell J","Mytinger JR","Wusthoff C","Chu CJ","Sullivan JE","Keator C","Loddenkemper T","Wirrell EC","Valencia I"],"additional_accession":[]},"is_claimable":false,"name":"Early-Life Epilepsies and the Emerging Role of Genetic Testing.","description":"<h4>Importance</h4>Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of these epilepsies is not established.<h4>Objective</h4>To provide a contemporary account of the patterns of use and diagnostic yield of genetic testing for early-life epilepsies.<h4>Design, setting, and participants</h4>In this prospective cohort, children with newly diagnosed epilepsy with an onset at less than 3 years of age were recruited from March 1, 2012, to April 30, 2015, from 17 US pediatric hospitals and followed up for 1 year. Of 795 families approached, 775 agreed to participate. Clinical diagnosis of the etiology of epilepsy were characterized based on information av","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Sep","modification":"2026-05-02T18:45:14.594Z","creation":"2019-03-26T23:54:22Z"},"accession":"S-EPMC5710404","cross_references":{"pubmed":["28759667"],"doi":["10.1001/jamapediatrics.2017.1743"]}}