{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T16:57:46Z","timestamp":1792515466802,"version":"4.5.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2017,9,13]],"date-time":"2017-09-13T00:00:00Z","timestamp":1505260800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Metab Brain Dis"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1007\/s11011-017-0109-y","type":"journal-article","created":{"date-parts":[[2017,9,12]],"date-time":"2017-09-12T18:32:56Z","timestamp":1505241176000},"page":"2131-2137","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels"],"prefix":"10.1007","volume":"32","author":[{"given":"Yoav","family":"Zehavi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"von Renesse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etty","family":"Daniel-Spiegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonatan","family":"Sapir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luci","family":"Zalman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilana","family":"Chervinsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Schuelke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Straussberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronen","family":"Spiegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,9,13]]},"reference":[{"key":"109_CR1","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1038\/nm1410","volume":"12","author":"AM Almeida","year":"2006","unstructured":"Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A (2006) Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med 12:846\u2013851","journal-title":"Nat Med"},{"key":"109_CR2","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1136\/jmedgenet-2013-102156","volume":"51","author":"T Chiyonobu","year":"2014","unstructured":"Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y (2014) Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet 51:203\u2013207","journal-title":"J Med Genet"},{"key":"109_CR3","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/S1474-4422(12)70040-6","volume":"11","author":"HH Freeze","year":"2012","unstructured":"Freeze HH, Eklund EA, Ng BG, Patterson MC (2012) Neurology of inherited glycosylation disorders. Lancet Neurol 11:453\u2013466","journal-title":"Lancet Neurol"},{"key":"109_CR4","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/j.ajhg.2013.03.008","volume":"92","author":"L Hansen","year":"2013","unstructured":"Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, N\u00f6then MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R (2013) Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet 92:575\u2013583","journal-title":"Am J Hum Genet"},{"key":"109_CR5","doi-asserted-by":"crossref","first-page":"1917","DOI":"10.1002\/ajmg.a.34102","volume":"155A","author":"D Horn","year":"2011","unstructured":"Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P (2011) Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am J Med Genet A 155A:1917\u20131922","journal-title":"Am J Med Genet A"},{"key":"109_CR6","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1093\/jb\/mvn090","volume":"144","author":"T Kinoshita","year":"2008","unstructured":"Kinoshita T, Fujita M, Maeda Y (2008) Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress. J Biochem (Tokyo) 144:287\u2013294","journal-title":"J Biochem (Tokyo)"},{"key":"109_CR7","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.ajhg.2012.05.004","volume":"91","author":"PM Krawitz","year":"2012","unstructured":"Krawitz PM, Murakami Y, Hecht J, Kr\u00fcger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D (2012) Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet 91:146\u2013151","journal-title":"Am J Hum Genet"},{"key":"109_CR8","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1212\/WNL.0b013e3182a8411a","volume":"81","author":"I Kuki","year":"2013","unstructured":"Kuki I, Takahashi Y, Okazaki S, Kawawaki H, Ehara E, Inoue N, Kinoshita T, Murakami Y (2013) Vitamin B6-responsive epilepsy due to inherited GPI deficiency. Neurology 81:1467\u20131469","journal-title":"Neurology"},{"key":"109_CR9","unstructured":"Li H (2013) Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. \nhttp:\/\/arxiv.Org\/pdf\/1303.3997.Pdf\n\n. Accessed at Sept 2015"},{"key":"109_CR10","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1136\/jmg.2010.087114","volume":"48","author":"G Maydan","year":"2011","unstructured":"Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L (2011) Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet 48:383\u2013389","journal-title":"J Med Genet"},{"key":"109_CR11","doi-asserted-by":"crossref","first-page":"e13","DOI":"10.1111\/epi.12508","volume":"55","author":"K Nakamura","year":"2014","unstructured":"Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, Matsumoto N, Saitsu H (2014) PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. Epilepsia 55:e13\u2013e17","journal-title":"Epilepsia"},{"key":"109_CR12","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.ajhg.2012.02.010","volume":"90","author":"BG Ng","year":"2012","unstructured":"Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH (2012) Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet 90:685\u2013688","journal-title":"Am J Hum Genet"},{"key":"109_CR13","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","volume":"11","author":"JM Schwarz","year":"2014","unstructured":"Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: Mutation prediction for the deep-sequencing age. Nat Methods 11:361\u2013362","journal-title":"Nat Methods"},{"key":"109_CR14","doi-asserted-by":"crossref","first-page":"W516","DOI":"10.1093\/nar\/gks487","volume":"40","author":"D Seelow","year":"2012","unstructured":"Seelow D, Schuelke M (2012) HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing. Nucleic Acids Res 40:W516\u2013W520","journal-title":"Nucleic Acids Res"},{"key":"109_CR15","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.braindev.2016.04.008","volume":"38","author":"J Xue","year":"2016","unstructured":"Xue J, Li H, Zhang Y, Yang Z (2016) Clinical and genetic analysis of two Chinese infants with Mabry syndrome. Brain Dev 38:807\u2013818","journal-title":"Brain Dev"}],"container-title":["Metabolic Brain Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11011-017-0109-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-017-0109-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-017-0109-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,11,11]],"date-time":"2017-11-11T03:22:06Z","timestamp":1510370526000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11011-017-0109-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,13]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["109"],"URL":"https:\/\/doi.org\/10.1007\/s11011-017-0109-y","relation":{},"ISSN":["0885-7490","1573-7365"],"issn-type":[{"value":"0885-7490","type":"print"},{"value":"1573-7365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,13]]}}}