{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,11,26]],"date-time":"2024-11-26T05:10:52Z","timestamp":1732597852837,"version":"3.28.0"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,25]]},"DOI":"10.7759\/cureus.74405","type":"journal-article","created":{"date-parts":[[2024,11,25]],"date-time":"2024-11-25T13:19:24Z","timestamp":1732540764000},"source":"Crossref","is-referenced-by-count":0,"title":["Early Neonatal Epilepsy Caused by Homozygous Mutation in the SLC13A5 Gene: A Case Report From India"],"prefix":"10.7759","author":[{"given":"Khalid M","family":"Saifullah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Snigdha","family":"Samanta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankit","family":"Ranjan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajesh","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103263","article-title":"Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis","volume":"53","author":"Trump N","year":"2016","unstructured":"Trump N, McTague A, Brittain H, et al.. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J Med Genet. 2016, 53:310-7. 10.1136\/jmedgenet-2015-103263","journal-title":"J Med Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24883","article-title":"Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression","volume":"81","author":"Olson HE","year":"2017","unstructured":"Olson HE, Kelly M, LaCoursiere CM, et al.. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017, 81:419-29. 10.1002\/ana.24883","journal-title":"Ann Neurol"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16699","article-title":"Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene","volume":"61","author":"Matricardi S","year":"2020","unstructured":"Matricardi S, De Liso P, Freri E, et al.. Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene. Epilepsia. 2020, 61:2474-85. 10.1111\/epi.16699","journal-title":"Epilepsia"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1177\/2329048X20931361","article-title":"Epilepsy and EEG phenotype of SLC13A5 citrate transporter disorder","volume":"7","author":"Yang QZ","year":"2020","unstructured":"Yang QZ, Spelbrink EM, Nye KL, Hsu ER, Porter BE. Epilepsy and EEG phenotype of SLC13A5 citrate transporter disorder. Child Neurol Open. 2020, 7:2329048X20931361. 10.1177\/2329048X20931361","journal-title":"Child Neurol Open"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2013.00059","article-title":"The glutamate-glutamine (GABA) cycle: Importance of late postnatal development and potential reciprocal interactions between biosynthesis and degradation","volume":"4","author":"Hertz L","year":"2013","unstructured":"Hertz L. The glutamate-glutamine (GABA) cycle: Importance of late postnatal development and potential reciprocal interactions between biosynthesis and degradation. Front Endocrinol (Lausanne). 2013, 4:59. 10.3389\/fendo.2013.00059","journal-title":"Front Endocrinol (Lausanne)"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3390\/genes13091655","article-title":"SLC13A5 deficiency disorder: from genetics to gene therapy","volume":"13","author":"Goodspeed K","year":"2022","unstructured":"Goodspeed K, Liu JS, Nye KL, et al.. SLC13A5 deficiency disorder: from genetics to gene therapy. Genes (Basel). 2022, 13:4-6. 10.3390\/genes13091655","journal-title":"Genes (Basel)"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2017.10.003","article-title":"The longevity gene INDY (I'm Not Dead Yet) in metabolic control: potential as pharmacological target","volume":"185","author":"Willmes DM","year":"2018","unstructured":"Willmes DM, Kurzbach A, Henke C, et al.. The longevity gene INDY (I'm Not Dead Yet) in metabolic control: potential as pharmacological target. Pharmacol Ther. 2018, 185:1-11. 10.1016\/j.pharmthera.2017.10.003","journal-title":"Pharmacol Ther"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.06.006","article-title":"Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life","volume":"95","author":"Thevenon J","year":"2014","unstructured":"Thevenon J, Milh M, Feillet F, et al.. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Am J Hum Genet. 2014, 95:113-20. 10.1016\/j.ajhg.2014.06.006","journal-title":"Am J Hum Genet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv263","article-title":"Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia","volume":"138","author":"Hardies K","year":"2015","unstructured":"Hardies K, de Kovel CG, Weckhuysen S, et al.. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain. 2015, 138:3238-50. 10.1093\/brain\/awv263","journal-title":"Brain"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51581","article-title":"Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy","volume":"9","author":"Santalucia R","year":"2022","unstructured":"Santalucia R, Vilain C, Soblet J, De Laet C, Vuckovic A, K\u00f6nig J, Aeby A. Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy. Ann Clin Transl Neurol. 2022, 9:1095-9. 10.1002\/acn3.51581","journal-title":"Ann Clin Transl Neurol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.4103\/ipjm.ipjm 1001 22","article-title":"SOFT syndrome with Kolscutter-Tonz syndrome","volume":"70","author":"Mondkar SA","year":"2024","unstructured":"Mondkar SA, Kadilkar V, Kasegaonkar P, Kadilkar A. SOFT syndrome with Kolscutter-Tonz syndrome. J Postgrad Med. 2024, 70:56-9. 10.4103\/ipjm.ipjm 1001 22","journal-title":"J Postgrad Med"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/311348-early-neonatal-epilepsy-caused-by-homozygous-mutation-in-the-slc13a5-gene-a-case-report-from-india","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,25]],"date-time":"2024-11-25T13:19:25Z","timestamp":1732540765000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/311348-early-neonatal-epilepsy-caused-by-homozygous-mutation-in-the-slc13a5-gene-a-case-report-from-india"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,25]]},"references-count":11,"URL":"https:\/\/doi.org\/10.7759\/cureus.74405","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,11,25]]}}}