{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T07:04:00Z","timestamp":1785308640104,"version":"3.55.0"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Syndrome\u2010specific International Classification of Diseases, 10th Revision (ICD\u201010) codes have the potential to improve identification of patients for precision therapies, clinical trials, and research, yet their real\u2010world uptake is not well characterized. We evaluated the utilization of syndrome\u2010specific ICD\u201010 codes at a large academic medical center among patients with pathogenic or likely pathogenic variants in 10 monogenic epilepsy genes with established codes (\n                    <jats:italic>CDKL5, EHMT1, KCNQ2, MECP2, MED13L, SCN1A, SHANK3, SLC13A5, SLC2A1, SYNGAP1<\/jats:italic>\n                    ). Patients were identified from an institutional genetic testing database and were included if they had at least one clinical encounter after code implementation or genetic diagnosis. Variants of uncertain significance were manually curated, and Rett and Dravet phenotypes were reviewed for accuracy. Of 83 patients with qualifying variants, 39 met inclusion criteria. Only 56.4% (22\/39) were ever assigned a syndrome\u2010specific ICD\u201010 code, which appeared in 31.1% of encounters and accounted for 14.5% of all documented codes. Uptake varied by syndrome, provider specialty, and encounter type and increased over time. In the Dravet syndrome subgroup (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200923), generic epilepsy codes were documented more than twice as often as the Dravet\u2010specific code (G40.83). When G40.83 was documented, other epilepsy codes were used less frequently, suggesting it may be treated as a substitute for broader epilepsy codes. These findings demonstrate inconsistent and limited adoption of syndrome\u2010specific ICD\u201010 codes, highlighting the need for improved coding support and integration of structured genetic data within the electronic health record.\n                  <\/jats:p>","DOI":"10.1002\/epi.70142","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T14:17:36Z","timestamp":1774534656000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Underutilization of syndrome\u2010specific\n                    <scp>ICD<\/scp>\n                    \u201010 codes for genetic epilepsies: Implications for precision medicine"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4728-347X","authenticated-orcid":false,"given":"\u00c9mile","family":"Moura Coelho da Silva","sequence":"first","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Center for Neurogenetics University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Br\u00fcnger","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Center for Neurogenetics University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Center for Neurogenetics University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mousumi","family":"Sinha","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Merket","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Center for Neurogenetics University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-2382-0633","authenticated-orcid":false,"given":"Anu","family":"Cherukara","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Center for Neurogenetics University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7660-3607","authenticated-orcid":false,"given":"Sunanjay","family":"Bajaj","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Clark","sequence":"additional","affiliation":[{"name":"University of Texas MD Anderson Cancer Center UTHealth Houston Graduate School of Biomedical Sciences  Houston Texas USA"},{"name":"Department of Plastic and Oral Surgery, Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2375-7359","authenticated-orcid":false,"given":"Ludovica","family":"Montanucci","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Center for Neurogenetics University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0521-471X","authenticated-orcid":false,"given":"Emily A.","family":"Huth","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Center for Neurogenetics University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Cardiovascular Genetics Center University of California, San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"Fauteux","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Center for Neurogenetics University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samden D.","family":"Lhatoo","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Texas Institute for Restorative Neurotechnologies University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1596-5599","authenticated-orcid":false,"given":"Christian M.","family":"Bo\u00dfelmann","sequence":"additional","affiliation":[{"name":"Department for Neurology and Epileptology, member of European Reference Network EpiCARE, Hertie Institute for Clinical Brain Research and Hertie Center of Neurology University Hospital T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Costin","family":"Leu","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Center for Neurogenetics University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Epilepsy Center, Neurological Institute Cleveland Clinic  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahil A.","family":"Tai","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5173-9636","authenticated-orcid":false,"given":"Dennis","family":"Lal","sequence":"additional","affiliation":[{"name":"Department of Neurology, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Center for Neurogenetics University of Texas Health Science Center at Houston  Houston Texas USA"},{"name":"Stanley Center for Psychiatric Research Broad Institute of Harvard and Massachusetts Institute of Technology  Cambridge Massachusetts USA"},{"name":"Pediatric Precision Health Program Cook Children\u2019s Health Care System  Fort Worth Texas USA"},{"name":"Center for Innovation in Health Informatics University of Texas at Arlington  Arlington Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17547"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2023.09.021"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.829116"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A4696"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03030-2"},{"key":"e_1_2_9_7_1","article-title":"ICD Code Roadmap Resource Guide. Everylife Found","author":"Kennedy A","year":"2021","journal-title":"Rare Dis"},{"key":"e_1_2_9_8_1","volume-title":"Rare epilepsies & ICD codes","author":"Rare Epilepsy Network","year":"2025"},{"key":"e_1_2_9_9_1","unstructured":"SimsS.KCNQ2\u2010related epilepsy ICD\u201010 codes approved! KCNQ2 cure alliance.https:\/\/www.kcnq2cure.org\/2024\/09\/09\/kcnq2\u2010related\u2010epilepsy\u2010icd\u201010\u2010codes\/2024."},{"key":"e_1_2_9_10_1","unstructured":"MeskinsMA.New ICD\u201010 codes for Dravet Syndrome! 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