{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T22:36:08Z","timestamp":1792881368884,"version":"4.5.0"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T00:00:00Z","timestamp":1786665600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T00:00:00Z","timestamp":1786665600000},"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":["J Hum Genet"],"published-print":{"date-parts":[[2026,11]]},"DOI":"10.1038\/s10038-026-01503-9","type":"journal-article","created":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T05:24:27Z","timestamp":1786685067000},"page":"731-740","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification"],"prefix":"10.1038","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7745-8165","authenticated-orcid":false,"given":"Mehmet Burak","family":"Mutlu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3886-3808","authenticated-orcid":false,"given":"Abdullah","family":"Sezer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-7175-2300","authenticated-orcid":false,"given":"Elif","family":"\u00d6zdemir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0261-9336","authenticated-orcid":false,"given":"Ay\u015fe","family":"Ka\u00e7ar Bayram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4293-910X","authenticated-orcid":false,"given":"Deniz","family":"G\u00fcven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5777-6147","authenticated-orcid":false,"given":"\u015e\u00fckriye","family":"Y\u0131lmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6740-1169","authenticated-orcid":false,"given":"Nil","family":"Sazl\u0131","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8176-4883","authenticated-orcid":false,"given":"Deniz","family":"Karata\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6600-9177","authenticated-orcid":false,"given":"Emine","family":"\u00d6z","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4408-4870","authenticated-orcid":false,"given":"Zeynep","family":"Bayramlar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5533-6025","authenticated-orcid":false,"given":"\u00d6zlem","family":"\u00d6z","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,8,14]]},"reference":[{"key":"1503_CR1","doi-asserted-by":"publisher","first-page":"e57060","DOI":"10.1371\/journal.pone.0057060","volume":"8","author":"Y Zhang","year":"2013","unstructured":"Zhang Y, Guo X, Wu A. Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification. PLoS One. 2013;8:e57060.","journal-title":"PLoS One"},{"key":"1503_CR2","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1007\/s12031-016-0868-7","volume":"61","author":"FT Larsen","year":"2017","unstructured":"Larsen FT, Jensen N, Autzen JK, Kongsfelt IB, Pedersen L. Primary brain calcification causal PiT2 transport-knockout variants can exert dominant negative effects on wild-type PiT2 transport function in mammalian cells. J Mol Neurosci. 2017;61:215\u201320.","journal-title":"J Mol Neurosci"},{"key":"1503_CR3","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-53401-0","volume":"9","author":"K Nishii","year":"2019","unstructured":"Nishii K, Shimogawa R, Kurita H, Inden M, Kobayashi M, Toyoshima I, et al. Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification. Sci Rep. 2019;9:17288.","journal-title":"Sci Rep"},{"key":"1503_CR4","doi-asserted-by":"publisher","first-page":"1336","DOI":"10.1002\/mds.28090","volume":"35","author":"K Cassinari","year":"2020","unstructured":"Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, et al. Haploinsufficiency of the primary familial brain calcification gene SLC20A2 mediated by disruption of a regulatory element. Mov Disord. 2020;35:1336\u201345.","journal-title":"Mov Disord"},{"key":"1503_CR5","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1007\/s10048-012-0349-2","volume":"14","author":"SC Hsu","year":"2013","unstructured":"Hsu SC, Sears RL, Lemos RR, Quint\u00e1ns B, Huang A, Spiteri E, et al. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013;14:11\u201322.","journal-title":"Neurogenetics"},{"key":"1503_CR6","doi-asserted-by":"publisher","first-page":"2468","DOI":"10.1002\/mds.28753","volume":"36","author":"A Balck","year":"2021","unstructured":"Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, et al. Genotype-phenotype relations in primary familial brain calcification: systematic MDSGene review. Mov Disord. 2021;36:2468\u201380.","journal-title":"Mov Disord"},{"key":"1503_CR7","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1038\/ng.1077","volume":"44","author":"C Wang","year":"2012","unstructured":"Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012;44:254\u20136.","journal-title":"Nat Genet"},{"key":"1503_CR8","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1002\/mds.70140","volume":"41","author":"W Luo","year":"2026","unstructured":"Luo W, Cen Z, Koek H, Carecchio M, Hozumi I, Chen WJ, et al. Primary brain calcification: an international consensus on nomenclature, diagnosis, evaluation, and management. Mov Disord. 2026;41:315\u201336.","journal-title":"Mov Disord"},{"key":"1503_CR9","unstructured":"Balck A, Klein C, Westenberger A. Primary Familial Brain Calcification Overview. 2004. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews\u00ae. Seattle: University of Washington, Seattle; 1993\u20132026."},{"key":"1503_CR10","doi-asserted-by":"publisher","first-page":"1757","DOI":"10.1007\/s13760-022-02044-6","volume":"123","author":"AC Ceylan","year":"2023","unstructured":"Ceylan AC, Kireker K\u00f6yl\u00fc O, \u00d6zy\u00fcrek H, \u00d6zaydin E, Y\u00f6n MI, Kasapkara CS. Homozygous SLC20A2 mutations cause a congenital CMV infection-like phenotype. Acta Neurol Belg. 2023;123:1757\u201361.","journal-title":"Acta Neurol Belg"},{"key":"1503_CR11","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324.","journal-title":"Genet Med"},{"key":"1503_CR12","doi-asserted-by":"publisher","first-page":"e202402708","DOI":"10.26508\/lsa.202402708","volume":"7","author":"AH Kim","year":"2024","unstructured":"Kim AH, Sakin I, Viviano S, Tuncel G, Aguilera SM, Goles G, et al. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow. Life Sci Alliance. 2024;7:e202402708.","journal-title":"Life Sci Alliance"},{"key":"1503_CR13","doi-asserted-by":"publisher","first-page":"1240","DOI":"10.1038\/s41431-025-01902-0","volume":"33","author":"A Sezer","year":"2025","unstructured":"Sezer A, Oner SS, Saat H, Turan MG, Gungor T, Cevik S, et al. A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia. Eur J Hum Genet. 2025;33:1240\u201351.","journal-title":"Eur J Hum Genet"},{"key":"1503_CR14","doi-asserted-by":"publisher","first-page":"24091","DOI":"10.1074\/jbc.M112.444505","volume":"288","author":"SS Oner","year":"2013","unstructured":"Oner SS, Vural A, Lanier SM. Translocation of activator of G-protein signaling 3 to the Golgi apparatus in response to receptor activation and its effect on the trans-Golgi network. J Biol Chem. 2013;288:24091\u2013103.","journal-title":"J Biol Chem"},{"key":"1503_CR15","doi-asserted-by":"publisher","first-page":"e202201844","DOI":"10.26508\/lsa.202201844","volume":"6","author":"S Cevik","year":"2023","unstructured":"Cevik S, Peng X, Beyer T, Pir MS, Yenisert F, Woerz F, et al. WDR31 displays functional redundancy with GTPase-activating proteins (GAPs) ELMOD and RP2 in regulating the IFT complex and recruiting the BBSome to the cilium. Life Sci Alliance. 2023;6:e202201844.","journal-title":"Life Sci Alliance"},{"key":"1503_CR16","doi-asserted-by":"publisher","first-page":"10886","DOI":"10.3390\/ijms241310886","volume":"24","author":"SY Chen","year":"2023","unstructured":"Chen SY, Ho CJ, Lu YT, Lin CH, Lan MY, Tsai MH. The genetics of primary familial brain calcification: a literature review. Int J Mol Sci. 2023;24:10886.","journal-title":"Int J Mol Sci"},{"key":"1503_CR17","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.bbrc.2022.12.050","volume":"642","author":"H Sun","year":"2023","unstructured":"Sun H, Wang Z, Zhang Q, Chen N, Tang M, Yang Z, et al. Golgi damage caused by dysfunction of PiT-2 in primary familial brain calcification. Biochem Biophys Res Commun. 2023;642:167\u201374.","journal-title":"Biochem Biophys Res Commun"},{"key":"1503_CR18","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1111\/bpa.12362","volume":"27","author":"MC Wallingford","year":"2017","unstructured":"Wallingford MC, Chia JJ, Leaf EM, Borgeia S, Chavkin NW, Sawangmake C, et al. SLC20A2 deficiency in mice leads to elevated phosphate levels in cerebrospinal fluid and glymphatic pathway-associated arteriolar calcification, and recapitulates human idiopathic basal ganglia calcification. Brain Pathol. 2017;27:64\u201376.","journal-title":"Brain Pathol"},{"key":"1503_CR19","doi-asserted-by":"publisher","DOI":"10.1186\/s13041-025-01240-8","volume":"18","author":"H Kurita","year":"2025","unstructured":"Kurita H, Kitaura H, Nishii K, Masaka T, Ohuchi K, Inden M, et al. Generation of a new Slc20a2 knockout mouse line as an in vivo model for primary brain calcification. Mol Brain. 2025;18:70.","journal-title":"Mol Brain"},{"key":"1503_CR20","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1007\/s10048-015-0469-6","volume":"17","author":"N Jensen","year":"2016","unstructured":"Jensen N, Autzen JK, Pedersen L. Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid. Neurogenetics. 2016;17:125\u201330.","journal-title":"Neurogenetics"},{"key":"1503_CR21","doi-asserted-by":"publisher","first-page":"3126","DOI":"10.1016\/j.neuron.2024.06.020","volume":"112","author":"X Cheng","year":"2024","unstructured":"Cheng X, Zhao M, Chen L, Huang C, Xu Q, Shao J, et al. Astrocytes modulate brain phosphate homeostasis via polarized distribution of phosphate uptake transporter PiT2 and exporter XPR1. Neuron. 2024;112:3126\u201342.e8.","journal-title":"Neuron"},{"key":"1503_CR22","doi-asserted-by":"publisher","first-page":"F1275","DOI":"10.1152\/ajprenal.00458.2013","volume":"306","author":"PM Guerreiro","year":"2014","unstructured":"Guerreiro PM, Bataille AM, Parker SL, Renfro JL. Active removal of inorganic phosphate from cerebrospinal fluid by the choroid plexus. Am J Physiol Ren Physiol. 2014;306:F1275\u201384.","journal-title":"Am J Physiol Ren Physiol"},{"key":"1503_CR23","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/j.parkreldis.2019.04.009","volume":"64","author":"S Chen","year":"2019","unstructured":"Chen S, Cen Z, Fu F, Chen Y, Chen X, Yang D, et al. Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: a cohort study of primary familial brain calcification from China. Parkinsonism Relat Disord. 2019;64:211\u20139.","journal-title":"Parkinsonism Relat Disord"},{"key":"1503_CR24","doi-asserted-by":"publisher","first-page":"1520","DOI":"10.1038\/s41431-021-00919-5","volume":"29","author":"A Arteche-L\u00f3pez","year":"2021","unstructured":"Arteche-L\u00f3pez A, \u00c1lvarez-Mora MI, S\u00e1nchez Calvin MT, Lezana Rosales JM, Palma Milla C, G\u00f3mez Rodr\u00edguez MJ, et al. Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2. Eur J Hum Genet. 2021;29:1520\u20136.","journal-title":"Eur J Hum Genet"},{"key":"1503_CR25","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1038\/s41431-023-01349-1","volume":"31","author":"G D'onofrio","year":"2023","unstructured":"D'onofrio G, Scala M, Severino M, Roberti R, Romano F, De Marco P, et al. Expanding the phenotype associated with biallelic SLC20A2 variants. Eur J Hum Genet. 2023;31:725\u20139.","journal-title":"Eur J Hum Genet"},{"key":"1503_CR26","volume":"2025","author":"L Baker","year":"2025","unstructured":"Baker L, Hadid F, Irshaidat SS, Altaraqji S, Benini R, Thabet F, et al. Rare presentation of homozygous SLC20A2 mutations causing intra-arterial cerebral vasculopathy and stroke in infancy: case report and review of the literature. Case Rep Genet. 2025;2025:1587968.","journal-title":"Case Rep Genet"},{"key":"1503_CR27","doi-asserted-by":"publisher","first-page":"3270","DOI":"10.1007\/s00415-023-11650-0","volume":"270","author":"M Carecchio","year":"2023","unstructured":"Carecchio M, Mainardi M, Bonato G. The clinical and genetic spectrum of primary familial brain calcification. J Neurol. 2023;270:3270\u20137.","journal-title":"J Neurol"},{"key":"1503_CR28","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1002\/1531-8249(200002)47:2<179::AID-ANA7>3.0.CO;2-Z","volume":"47","author":"F Dubeau","year":"2000","unstructured":"Dubeau F, De Stefano N, Zifkin BG, Arnold DL, Shoubridge EA. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree. Ann Neurol. 2000;47:179\u201385.","journal-title":"Ann Neurol"},{"key":"1503_CR29","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1212\/WNL.39.5.693","volume":"39","author":"MH Rivner","year":"1989","unstructured":"Rivner MH, Shamsnia M, Swift TR, Trefz J, Roesel RA, Carter AL, et al. Kearns-Sayre syndrome and complex II deficiency. Neurology. 1989;39:693\u20136.","journal-title":"Neurology"},{"key":"1503_CR30","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.776807","volume":"12","author":"J Xie","year":"2022","unstructured":"Xie J, Jiang J, Guo Q. Primary coenzyme Q10 deficiency-7 and pathogenic COQ4 variants: clinical presentation, biochemical analyses, and treatment. Front Genet. 2022;12:776807.","journal-title":"Front Genet"},{"key":"1503_CR31","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1016\/j.matbio.2009.02.003","volume":"28","author":"S Sercu","year":"2009","unstructured":"Sercu S, Lambeir AM, Steenackers E, El Ghalbzouri A, Geentjens K, Sasaki T, et al. ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain. Matrix Biol. 2009;28:160\u20139.","journal-title":"Matrix Biol"},{"key":"1503_CR32","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1111\/bpa.12787","volume":"30","author":"K Nahar","year":"2020","unstructured":"Nahar K, Lebouvier T, Andaloussi M\u00e4e M, Konzer A, Bergquist J, Zarb Y, et al. Astrocyte-microglial association and matrix composition are common events in the natural history of primary familial brain calcification. Brain Pathol. 2020;30:446\u201364.","journal-title":"Brain Pathol"},{"key":"1503_CR33","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2023.1073723","volume":"16","author":"Y Zhang","year":"2023","unstructured":"Zhang Y, Ren Y, Zhang Y, Li Y, Xu C, Peng Z, et al. T-cell infiltration in the central nervous system and their association with brain calcification in Slc20a2-deficient mice. Front Mol Neurosci. 2023;16:1073723.","journal-title":"Front Mol Neurosci"},{"key":"1503_CR34","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1670","volume":"9","author":"H Sun","year":"2021","unstructured":"Sun H, Cao Z, Gao R, Li Y, Chen R, Du S, et al. Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl. Mol Genet Genom Med. 2021;9:e1670.","journal-title":"Mol Genet Genom Med"},{"key":"1503_CR35","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1038\/ng.3289","volume":"47","author":"A Legati","year":"2015","unstructured":"Legati A, Giovannini D, Nicolas G, L\u00f3pez-S\u00e1nchez U, Quint\u00e1ns B, Oliveira JR, et al. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet. 2015;47:579\u201381.","journal-title":"Nat Genet"},{"key":"1503_CR36","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.639935","volume":"12","author":"Y Ren","year":"2021","unstructured":"Ren Y, Shen Y, Si N, Fan S, Zhang Y, Xu W, et al. Slc20a2-deficient mice exhibit multisystem abnormalities and impaired spatial learning, memory and sensorimotor gating but normal motor coordination abilities. Front Genet. 2021;12:639935.","journal-title":"Front Genet"},{"key":"1503_CR37","doi-asserted-by":"publisher","first-page":"1101","DOI":"10.1002\/jbmr.3691","volume":"34","author":"S Beck-Cormier","year":"2019","unstructured":"Beck-Cormier S, Lelliott CJ, Logan JG, Lafont DT, Merametdjian L, Leitch VD, et al. Slc20a2, encoding the phosphate transporter PiT2, is an important genetic determinant of bone quality and strength. J Bone Min Res. 2019;34:1101\u201314.","journal-title":"J Bone Min Res"},{"key":"1503_CR38","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1007\/s12031-013-0085-6","volume":"51","author":"N Jensen","year":"2013","unstructured":"Jensen N, Schr\u00f8der HD, Hejb\u00f8l EK, F\u00fcchtbauer EM, de Oliveira JR, Pedersen L. Loss of function of Slc20a2 associated with familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice. J Mol Neurosci. 2013;51:994\u20139.","journal-title":"J Mol Neurosci"},{"key":"1503_CR39","doi-asserted-by":"publisher","first-page":"1865","DOI":"10.1016\/j.ajpath.2018.04.010","volume":"188","author":"N Jensen","year":"2018","unstructured":"Jensen N, Schr\u00f8der HD, Hejb\u00f8l EK, Thomsen JS, Br\u00fcel A, Larsen FT, et al. Mice knocked out for the primary brain calcification-associated gene Slc20a2 show unimpaired prenatal survival but retarded growth and nodules in the brain that grow and calcify over time. Am J Pathol. 2018;188:1865\u201381.","journal-title":"Am J Pathol"},{"key":"1503_CR40","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1016\/j.bbrc.2017.11.071","volume":"495","author":"S Yamada","year":"2018","unstructured":"Yamada S, Wallingford MC, Borgeia S, Cox TC, Giachelli CM. Loss of PiT-2 results in abnormal bone development and decreased bone mineral density and length in mice. Biochem Biophys Res Commun. 2018;495:553\u20139.","journal-title":"Biochem Biophys Res Commun"},{"key":"1503_CR41","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1001\/archneur.64.1.43","volume":"64","author":"M Mesulam","year":"2007","unstructured":"Mesulam M, Johnson N, Krefft TA, Gass JM, Cannon AD, Adamson JL, et al. Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. Arch Neurol. 2007;64:43\u20137.","journal-title":"Arch Neurol"},{"key":"1503_CR42","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1093\/brain\/awz377","volume":"143","author":"V Huin","year":"2020","unstructured":"Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, et al. Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms. Brain. 2020;143:303\u201319.","journal-title":"Brain"},{"key":"1503_CR43","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1016\/j.braindev.2020.09.014","volume":"43","author":"LO Tang","year":"2021","unstructured":"Tang LO, Hou BH, Zhang XN, Xi ZY, Li CX, Xu L. Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions. Brain Dev. 2021;43:331\u20136.","journal-title":"Brain Dev"},{"key":"1503_CR44","unstructured":"Tamary H, Dgany O Alpha-thalassemia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews\u00ae. Seattle: University of Washington, Seattle; 2005."},{"key":"1503_CR45","doi-asserted-by":"publisher","first-page":"1496","DOI":"10.3390\/genes16121496","volume":"16","author":"A Bougea","year":"2025","unstructured":"Bougea A. Underlying mechanisms of GBA1 in Parkinson\u2019s disease and dementia with Lewy bodies: narrative review. Genes. 2025;16:1496.","journal-title":"Genes"},{"key":"1503_CR46","unstructured":"Hughes DA, Pastores GM. Gaucher disease. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews\u00ae. Seattle: University of Washington, Seattle; 2000."},{"key":"1503_CR47","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1002\/humu.20524","volume":"28","author":"ME Grace","year":"2007","unstructured":"Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum Mutat. 2007;28:866\u201373.","journal-title":"Hum Mutat"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s10038-026-01503-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-026-01503-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-026-01503-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T22:01:34Z","timestamp":1792879294000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-026-01503-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,14]]},"references-count":47,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2026,11]]}},"alternative-id":["1503"],"URL":"https:\/\/doi.org\/10.1038\/s10038-026-01503-9","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,14]]},"assertion":[{"value":"10 June 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 July 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 July 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 August 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Ethics"}},{"value":"Ethical approval was obtained from the Harran University Clinical Research Ethics Committee (approval number: HR\u00dc\/24.14.23). The study was conducted in accordance with the guidelines of the Harran University Clinical Research Ethics Committee and the Declaration of Helsinki.","order":2,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Ethics"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardians.","order":3,"name":"Ethics","label":"Consent to participate","group":{"name":"EthicsHeading","label":"Ethics"}}]}}