{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:16:40Z","timestamp":1787026600997,"version":"build-2736575974"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2024,8,15]],"date-time":"2024-08-15T00:00:00Z","timestamp":1723680000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,8,15]],"date-time":"2024-08-15T00:00:00Z","timestamp":1723680000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neurol Belg"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1007\/s13760-024-02611-z","type":"journal-article","created":{"date-parts":[[2024,8,15]],"date-time":"2024-08-15T18:01:51Z","timestamp":1723744911000},"page":"1959-1972","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a\u00a0novel SLC13A5 variant"],"prefix":"10.1007","volume":"124","author":[{"given":"Mohammad Farid","family":"Mohammadi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahand","family":"Tehrani Fateh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maedeh","family":"Ganji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pouria","family":"Mohammadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayyeb","family":"Bahrami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud Reza","family":"Ashrafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sareh","family":"Hosseinpour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morteza","family":"Heidari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0440-5809","authenticated-orcid":false,"given":"Ali Reza","family":"Tavasoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,15]]},"reference":[{"issue":"7","key":"2611_CR1","doi-asserted-by":"publisher","first-page":"1972","DOI":"10.1002\/ajmg.a.62192","volume":"185","author":"R Duan","year":"2021","unstructured":"Duan R, Saadi NW, Grochowski CM, Bhadila G, Faridoun A, Mitani T et al (2021) A novel homozygous SLC13A5 whole-gene deletion generated by Alu\/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet Part A 185(7):1972\u20131980","journal-title":"Am J Med Genet Part A"},{"key":"2611_CR2","doi-asserted-by":"publisher","first-page":"16090","DOI":"10.4238\/2015.December.7.21","volume":"14","author":"L Wang","year":"2015","unstructured":"Wang L, Jiang J, Ma HM (2015) Molecular characterization, tissue expression profile, and SNP analysis of porcine SLC13A5. Genet Mol Res 14:16090\u201316101","journal-title":"Genet Mol Res"},{"issue":"3","key":"2611_CR3","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1016\/S0006-291X(02)02669-4","volume":"299","author":"K Inoue","year":"2002","unstructured":"Inoue K, Zhuang L, Ganapathy V, communications br (2002) Human Na+-coupled citrate transporter: primary structure, genomic organization, and transport function. Biochem Biophys Res Commun 299(3):465\u2013471","journal-title":"Biochem Biophys Res Commun"},{"issue":"1","key":"2611_CR4","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1042\/bj20030827","volume":"374","author":"K Inoue","year":"2003","unstructured":"Inoue K, Zhuang L, Maddox DM, Smith SB, Ganapathy V (2003) Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action. Biochem J 374(1):21\u201326","journal-title":"Biochem J"},{"issue":"3","key":"2611_CR5","doi-asserted-by":"publisher","first-page":"378","DOI":"10.3390\/molecules22030378","volume":"22","author":"YD Bhutia","year":"2017","unstructured":"Bhutia YD, Kopel JJ, Lawrence JJ, Neugebauer V, Ganapathy V (2017) Plasma membrane Na+-coupled citrate transporter (SLC13A5) and neonatal epileptic encephalopathy. Molecules 22(3):378","journal-title":"Molecules"},{"issue":"1","key":"2611_CR6","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1136\/jmedgenet-2016-103988","volume":"54","author":"A Schossig","year":"2017","unstructured":"Schossig A, Bloch-Zupan A, Lussi A, Wolf NI, Raskin S, Cohen M et al (2017) SLC13A5 is the second gene associated with Kohlsch\u00fctter-T\u00f6nz syndrome. J Med Genet 54(1):54\u201362","journal-title":"J Med Genet"},{"issue":"1","key":"2611_CR7","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.ajhg.2014.06.006","volume":"95","author":"J Thevenon","year":"2014","unstructured":"Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jug\u00e9 C et al (2014) Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Am J Hum Genet 95(1):113\u2013120","journal-title":"Am J Hum Genet"},{"key":"2611_CR8","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1007\/8904_2016_546","volume":"31","author":"I Anselm","year":"2016","unstructured":"Anselm I, MacCuaig M, Prabhu SB, Berry GT (2016) Disease heterogeneity in Na+\/citrate cotransporter deficiency. JIMD Rep 31:107\u2013111","journal-title":"JIMD Rep"},{"issue":"1","key":"2611_CR9","doi-asserted-by":"publisher","first-page":"310","DOI":"10.2119\/molmed.2016.00077","volume":"22","author":"J Klotz","year":"2016","unstructured":"Klotz J, Porter BE, Colas C, Schlessinger A, Pajor AM (2016) Mutations in the Na+\/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay. Mol Med 22(1):310\u2013321","journal-title":"Mol Med"},{"issue":"11","key":"2611_CR10","doi-asserted-by":"publisher","first-page":"3238","DOI":"10.1093\/brain\/awv263","volume":"138","author":"K Hardies","year":"2015","unstructured":"Hardies K, De Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T et al (2015) Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain 138(11):3238\u20133250","journal-title":"Brain"},{"issue":"4","key":"2611_CR11","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1007\/s12031-021-01955-y","volume":"72","author":"AR Tavasoli","year":"2022","unstructured":"Tavasoli AR, Memar EHE, Ashrafi MR, Hosseini SMM, Haghighi R, Ghabeli H et al (2022) Primary and secondary microcephaly, global developmental delay, and seizure in two siblings caused by a novel missense variant in the ZNF335 gene. J Mol Neurosci 72(4):719\u2013729","journal-title":"J Mol Neurosci"},{"issue":"11","key":"2611_CR12","doi-asserted-by":"publisher","first-page":"e1834","DOI":"10.1002\/mgg3.1834","volume":"9","author":"P Mohammadi","year":"2021","unstructured":"Mohammadi P, Salehi Siavashani E, Mohammadi MF, Bahramy A, Almadani N, Garshasbi M et al (2021) Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type3. Mol Genet Genomic Med 9(11):e1834","journal-title":"Mol Genet Genomic Med"},{"issue":"5","key":"2611_CR13","doi-asserted-by":"publisher","first-page":"1125","DOI":"10.1007\/s12031-022-01993-0","volume":"72","author":"MR Ashrafi","year":"2022","unstructured":"Ashrafi MR, Haghighi R, Badv RS, Ghabeli H, Tavasoli AR, Pourbakhtyaran E et al (2022) Epilepsia partialis continua a clinical feature of a missense variant in the ADCK3 Gene and Poor Response to Therapy. J Mol Neurosci 72(5):1125\u20131132","journal-title":"J Mol Neurosci"},{"issue":"5","key":"2611_CR14","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1089\/bio.2015.0032","volume":"13","author":"LJ Carithers","year":"2015","unstructured":"Carithers LJ, Ardlie K, Barcus M, Branton PA, Britton A, Buia SA et al (2015) A novel approach to high-quality postmortem tissue procurement: the GTEx project. Biopreserv Biobank 13(5):311\u2013319","journal-title":"Biopreserv Biobank"},{"issue":"D1","key":"2611_CR15","doi-asserted-by":"publisher","first-page":"D1271","DOI":"10.1093\/nar\/gkx1029","volume":"46","author":"T Schmidt","year":"2018","unstructured":"Schmidt T, Samaras P, Frejno M, Gessulat S, Barnert M, Kienegger H et al (2018) ProteomicsDB. Nucleic Acids Res 46(D1):D1271\u2013D1281","journal-title":"Nucleic Acids Res"},{"issue":"7848","key":"2611_CR16","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1038\/s41586-021-03230-x","volume":"591","author":"DB Sauer","year":"2021","unstructured":"Sauer DB, Song J, Wang B, Hilton JK, Karpowich NK, Mindell JA et al (2021) Structure and inhibition mechanism of the human citrate transporter NaCT. Nature 591(7848):157\u2013161","journal-title":"Nature"},{"issue":"2","key":"2611_CR17","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1016\/j.ejpn.2016.11.002","volume":"21","author":"LC Weeke","year":"2017","unstructured":"Weeke LC, Brilstra E, Braun KP, Zonneveld-Huijssoon E, Salomons GS, Koeleman BP et al (2017) Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations. Eur J Paediatr Neurol 21(2):396\u2013403","journal-title":"Eur J Paediatr Neurol"},{"key":"2611_CR18","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.90.15_supplement.P1.306","author":"AA Al Ghamdi","year":"2018","unstructured":"Al Ghamdi AA, Al Shahwan S, Alshibani F, Melaiki B (2018) Recessive mutations in SLC13A5 result in a loss of citrate transport and cause refractory epilepsy\/status epilepticus, developmental delay and progressive microcephaly (P1 306). Neurology. https:\/\/doi.org\/10.1212\/WNL.90.15_supplement.P1.306","journal-title":"Neurology"},{"key":"2611_CR19","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.seizure.2023.01.014","volume":"106","author":"R Whitney","year":"2023","unstructured":"Whitney R, Choi E, Jones KC (2023) The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy. Seizure 106:8\u201313","journal-title":"Seizure"},{"key":"2611_CR20","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.ijdevneu.2019.04.006","volume":"77","author":"ALA Nguyen","year":"2019","unstructured":"Nguyen ALA, Ding Y, Suffren S, Londono I, Luck D, Lodygensky GA (2019) The brain\u2019s kryptonite: overview of punctate white matter lesions in neonates. Int J Dev Neurosci 77:77\u201388","journal-title":"Int J Dev Neurosci"},{"key":"2611_CR21","doi-asserted-by":"crossref","unstructured":"Pellegrino F, Tardivo I (2021) SLC13A5-related epileptic encephalopathy successfully treated with valproate and acetazolamide. Seizure 91:244\u2013245","DOI":"10.1016\/j.seizure.2021.06.029"},{"key":"2611_CR22","doi-asserted-by":"crossref","unstructured":"Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T et al (2017) Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab 121(4):314\u2013319","DOI":"10.1016\/j.ymgme.2017.06.009"},{"key":"2611_CR23","doi-asserted-by":"crossref","unstructured":"Alhakeem A, Alshibani F, Tabarki B (2018) Extending the use of stiripentol to SLC13A5-related epileptic encephalopathy. Brain Dev 40(9):827\u2013829","DOI":"10.1016\/j.braindev.2018.05.020"}],"container-title":["Acta Neurologica Belgica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-024-02611-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13760-024-02611-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-024-02611-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T02:06:38Z","timestamp":1733277998000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13760-024-02611-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,15]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["2611"],"URL":"https:\/\/doi.org\/10.1007\/s13760-024-02611-z","relation":{},"ISSN":["0300-9009","2240-2993"],"issn-type":[{"value":"0300-9009","type":"print"},{"value":"2240-2993","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,15]]},"assertion":[{"value":"27 November 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 August 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Written consent forms were obtained from parents as legal guardians of the probands. The study protocol was approved by the local medical ethical committee of Children\u2019s Medical Center, Tehran University of Medical Sciences,Tehran, Iran. The study was being performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}