{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:57:38Z","timestamp":1760785058342,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T00:00:00Z","timestamp":1652140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Individuals who received epilepsy gene panel testing through Behind the Seizure<jats:sup>\u00ae<\/jats:sup>, a sponsored genetic testing program (Cohort A), were compared to children outside of the sponsored testing program during the same period (Cohort B). Two cohorts were analyzed: children aged \u226524 to \u226460\u00a0months with unprovoked seizure onset at \u226524\u00a0months between December 2016 and January 2020 (Cohort 1) and children aged 0 to \u226460\u00a0months at time of testing with unprovoked seizure onset at any age between February 2019 and January 2020 (Cohort 2). The diagnostic yield in Cohort 1A (<jats:italic>n<\/jats:italic>\u00a0=\u00a01814) was 8.4% (<jats:italic>n<\/jats:italic>\u00a0=\u00a0153). The <jats:italic>TPP1<\/jats:italic> diagnostic yield within Cohort 1A was 2.9\u2010fold higher compared to Cohort 1B (1.0%, <jats:italic>n<\/jats:italic>\u00a0=\u00a018\/1814 vs. .35%, <jats:italic>n<\/jats:italic>\u00a0=\u00a08\/2303; <jats:italic>p<\/jats:italic>\u00a0=\u00a0.0157). The average time from first symptom to CLN2 disease diagnosis was significantly shorter than previously reported (9.8 vs. 22.7\u00a0months, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.001). These findings indicate that facilitated access to early epilepsy gene panel testing helps to increase diagnostic yield for CLN2 disease and shortens the time to diagnosis, enabling earlier intervention.<\/jats:p>","DOI":"10.1111\/epi.17269","type":"journal-article","created":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T04:58:31Z","timestamp":1651035511000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease"],"prefix":"10.1111","volume":"63","author":[{"given":"Fernanda","family":"Leal\u2010Pardinas","sequence":"first","affiliation":[{"name":"BioMarin Pharmaceutical, Inc  Novato California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Truty","sequence":"additional","affiliation":[{"name":"Invitae  San Francisco California 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USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Cohen\u2010Pfeffer","sequence":"additional","affiliation":[{"name":"BioMarin Pharmaceutical, Inc  Novato California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Izzo","sequence":"additional","affiliation":[{"name":"BioMarin Pharmaceutical, Inc  Novato California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raman","family":"Sankar","sequence":"additional","affiliation":[{"name":"David Geffen School of Medicine at University of California, Los Angeles  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sookyong","family":"Koh","sequence":"additional","affiliation":[{"name":"University of Nebraska Medical Center  Omaha Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3015-8282","authenticated-orcid":false,"given":"Elaine C.","family":"Wirrell","sequence":"additional","affiliation":[{"name":"Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0798-0131","authenticated-orcid":false,"given":"John J.","family":"Millichap","sequence":"additional","affiliation":[{"name":"Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6219-2931","authenticated-orcid":false,"given":"Swaroop","family":"Aradhya","sequence":"additional","affiliation":[{"name":"Invitae  San Francisco California 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