{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T21:37:47Z","timestamp":1787002667361,"version":"build-2736575974"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T00:00:00Z","timestamp":1631750400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T00:00:00Z","timestamp":1631750400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2022,3]]},"DOI":"10.1038\/s10038-021-00975-1","type":"journal-article","created":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T21:02:22Z","timestamp":1631739742000},"page":"165-168","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia"],"prefix":"10.1038","volume":"67","author":[{"given":"Fei","family":"Xie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuqi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinhui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6951-7698","authenticated-orcid":false,"given":"Wei","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,9,16]]},"reference":[{"key":"975_CR1","doi-asserted-by":"publisher","first-page":"2322","DOI":"10.1093\/brain\/awx195","volume":"140","author":"S Syrbe","year":"2017","unstructured":"Syrbe S, Harms FL, Parrini E, Montomoli M, Mutze U, Helbig KL, et al. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017;140:2322\u201336.","journal-title":"Brain"},{"key":"975_CR2","doi-asserted-by":"crossref","first-page":"2768","DOI":"10.1002\/ajmg.a.40628","volume":"176","author":"V Gartner","year":"2018","unstructured":"Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, et al. Novel variants in SPTAN1 without epilepsy: an expansion of the phenotype. Am J Med Genet A. 2018;176:2768\u201376.","journal-title":"Am J Med Genet A"},{"key":"975_CR3","doi-asserted-by":"publisher","first-page":"2605","DOI":"10.1093\/brain\/awz216","volume":"142","author":"D Beijer","year":"2019","unstructured":"Beijer D, Deconinck T, De Bleecker JL, Dotti MT, Malandrini A, Urtizberea JA, et al. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. Brain. 2019;142:2605\u201316.","journal-title":"Brain"},{"key":"975_CR4","doi-asserted-by":"publisher","first-page":"e11","DOI":"10.1093\/brain\/awaa357","volume":"144","author":"HL Dong","year":"2021","unstructured":"Dong HL, Chen L, Wu ZY. A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family. Brain. 2021;144:e11.","journal-title":"Brain"},{"key":"975_CR5","doi-asserted-by":"publisher","first-page":"e104","DOI":"10.1093\/brain\/awaa344","volume":"143","author":"E Ylikallio","year":"2020","unstructured":"Ylikallio E, Ritari N, Sainio M, Toppila J, Kivirikko S, Tyynismaa H, et al. De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder. Brain. 2020;143:e104.","journal-title":"Brain"},{"key":"975_CR6","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1038\/s10038-019-0669-2","volume":"64","author":"E Leveille","year":"2019","unstructured":"Leveille E, Estiar MA, Krohn L, Spiegelman D, Dionne-Laporte A, Dupre N, et al. SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia. J Hum Genet. 2019;64:1145\u201351.","journal-title":"J Hum Genet"},{"key":"975_CR7","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/j.molmed.2007.11.005","volume":"14","author":"V Bennett","year":"2008","unstructured":"Bennett V, Healy J. Organizing the diseases fluid membrane bilayer: diseases linked to spectrin and ankyrin. Trends Mol Med. 2008;14:28\u201336.","journal-title":"Trends Mol Med"},{"key":"975_CR8","doi-asserted-by":"publisher","first-page":"11323","DOI":"10.1523\/JNEUROSCI.2113-17.2017","volume":"37","author":"CY Huang","year":"2017","unstructured":"Huang CY, Zhang C, Zollinger DR, Leterrier C, Rasband MN. An alphaII spectrin-based cytoskeleton protects large-diameter myelinated axons from degeneration. J Neurosci. 2017;37:11323\u201334.","journal-title":"J Neurosci"},{"key":"975_CR9","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1038\/nature13394","volume":"511","author":"C Gilissen","year":"2014","unstructured":"Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014;511:344\u20137.","journal-title":"Nature"},{"key":"975_CR10","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1038\/ejhg.2011.271","volume":"20","author":"FF Hamdan","year":"2012","unstructured":"Hamdan FF, Saitsu H, Nishiyama K, Gauthier J, Dobrzeniecka S, Spiegelman D, et al. Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. Eur J Hum Genet. 2012;20:796\u2013800.","journal-title":"Eur J Hum Genet"},{"key":"975_CR11","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1007\/s00439-015-1575-0","volume":"134","author":"T Yavarna","year":"2015","unstructured":"Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, et al. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet. 2015;134:967\u201380.","journal-title":"Hum Genet"},{"key":"975_CR12","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1038\/gim.2015.148","volume":"18","author":"K Retterer","year":"2016","unstructured":"Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016;18:696\u2013704.","journal-title":"Genet Med"},{"key":"975_CR13","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1016\/j.ajhg.2010.04.013","volume":"86","author":"H Saitsu","year":"2010","unstructured":"Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, et al. Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet. 2010;86:881\u201391.","journal-title":"Am J Hum Genet"},{"key":"975_CR14","doi-asserted-by":"publisher","first-page":"e106","DOI":"10.1111\/j.1528-1167.2012.03437.x","volume":"53","author":"K Writzl","year":"2012","unstructured":"Writzl K, Primec ZR, Strazisar BG, Osredkar D, Pecaric-Meglic N, Kranjc BS, et al. Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. Epilepsia. 2012;53:e106\u201310.","journal-title":"Epilepsia."},{"key":"975_CR15","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1016\/j.braindev.2012.05.002","volume":"35","author":"Y Nonoda","year":"2013","unstructured":"Nonoda Y, Saito Y, Nagai S, Sasaki M, Iwasaki T, Matsumoto N, et al. Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. Brain Dev. 2013;35:280\u20133.","journal-title":"Brain Dev"},{"key":"975_CR16","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/jhg.2015.5","volume":"60","author":"J Tohyama","year":"2015","unstructured":"Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, et al. SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet. 2015;60:167\u201373.","journal-title":"J Hum Genet"},{"key":"975_CR17","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/j.yebeh.2014.06.018","volume":"37","author":"MA Ream","year":"2014","unstructured":"Ream MA, Mikati MA. Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. Epilepsy Behav. 2014;37:241\u20138.","journal-title":"Epilepsy Behav"},{"key":"975_CR18","doi-asserted-by":"publisher","first-page":"1976","DOI":"10.3390\/ijms19071976","volume":"19","author":"V Rapaccini","year":"2018","unstructured":"Rapaccini V, Esposito S, Strinati F, Allegretti M, Manfroi E, Miconi F, et al. A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy. Int J Mol Sci. 2018;19:1976\u201381.","journal-title":"Int J Mol Sci"},{"key":"975_CR19","doi-asserted-by":"publisher","first-page":"15012","DOI":"10.1038\/npjgenmed.2015.12","volume":"1","author":"DJ Stavropoulos","year":"2016","unstructured":"Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, et al. Whole genome sequencing expands diagnostic utility and improves clinical management in pediatric medicine. NPJ Genom Med. 2016;1:15012\u201320.","journal-title":"NPJ Genom Med"},{"key":"975_CR20","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/j.ejpn.2020.07.008","volume":"28","author":"G Terrone","year":"2020","unstructured":"Terrone G, Pinelli M, Bernardo P, Parrini E, Imperati F, Brunetti-Pierri N, et al. Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy. Eur J Paediatr Neurol. 2020;28:237\u20139.","journal-title":"Eur J Paediatr Neurol"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00975-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00975-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00975-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T16:37:59Z","timestamp":1699461479000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00975-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,16]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["975"],"URL":"https:\/\/doi.org\/10.1038\/s10038-021-00975-1","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,16]]},"assertion":[{"value":"23 June 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 August 2021","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 August 2021","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 September 2021","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","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}