{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:49:16Z","timestamp":1791978556626,"version":"4.4.0"},"reference-count":13,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Tess Research Foundation"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2020,1,1]]},"abstract":"<jats:p>Mutations in the SLC13A5 gene, a sodium citrate cotransporter, cause a rare autosomal recessive epilepsy (EIEE25) that begins during the neonatal period and is associated with motor and cognitive impairment. Patient\u2019s seizure burden, semiology, and electroencephalography (EEG) findings have not been well characterized. Data on 23 patients, 3 months to 29 years of age are reported. Seizures began during the neonatal period in 22 patients. Although seizures are quite severe in many patients later in life, seizure freedom was attainable in a minority of patients. Multiple patients\u2019 chronic seizure management included a few common medications, phenobarbital and valproic acid in particular. Patients EEGs had a relatively well-preserved background for age, even in the face of frequent seizures, little slowing and multiple normal EEGs and do not support an epileptic encephalopathy. Other causes for the motor and cognitive delay beyond epilepsy warrant further study.<\/jats:p>","DOI":"10.1177\/2329048x20931361","type":"journal-article","created":{"date-parts":[[2020,6,8]],"date-time":"2020-06-08T07:10:26Z","timestamp":1591600226000},"page":"2329048X2093136","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":35,"title":["Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder"],"prefix":"10.1177","volume":"7","author":[{"given":"Qian-Zhou","family":"Yang","sequence":"first","affiliation":[{"name":"Division of Child Neurology, Department of Neurology, Stanford University School of Medicine, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily M.","family":"Spelbrink","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Neurology, Stanford University School of Medicine, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly L.","family":"Nye","sequence":"additional","affiliation":[{"name":"TESS Research Foundation, Redwood City, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily R.","family":"Hsu","sequence":"additional","affiliation":[{"name":"TESS Research Foundation, Redwood City, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6346-7327","authenticated-orcid":false,"given":"Brenda E.","family":"Porter","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Neurology, Stanford University School of Medicine, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,6,8]]},"reference":[{"key":"bibr1-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.06.006"},{"key":"bibr2-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv263"},{"key":"bibr3-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.2119\/molmed.2016.00077"},{"key":"bibr4-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103988"},{"issue":"3","key":"bibr5-2329048X20931361","first-page":"033","volume":"1","author":"Kopel JJ","year":"2017","journal-title":"Int J Neurol Disord [Internet]"},{"key":"bibr6-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-29547-8"},{"key":"bibr7-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2011.06.009"},{"key":"bibr8-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2017.10.003"},{"key":"bibr9-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.06.009"},{"key":"bibr10-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0175465"},{"key":"bibr11-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.3390\/molecules22030378"},{"key":"bibr12-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.2165\/00023210-199504060-00009"},{"key":"bibr13-2329048X20931361","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13709"}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X20931361","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X20931361","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X20931361","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:57:59Z","timestamp":1777391879000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X20931361"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,1]]},"references-count":13,"alternative-id":["10.1177\/2329048X20931361"],"URL":"https:\/\/doi.org\/10.1177\/2329048x20931361","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,1]]}}}