{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T11:16:09Z","timestamp":1780658169855,"version":"3.54.1"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,1,13]],"date-time":"2014-01-13T00:00:00Z","timestamp":1389571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2014,2]]},"abstract":"Summary<\/jats:title>Aberrations in the glycosylphosphatidylinositol (GPI<\/jats:styled-content>)\u2013anchor biosynthesis pathway constitute a subclass of congenital disorders of glycosylation, and mutations in seven genes involved in this pathway have been identified. Among them, mutations in PIGV<\/jats:styled-content><\/jats:italic> and PIGO<\/jats:styled-content><\/jats:italic>, which are involved in the late stages of GPI<\/jats:styled-content>\u2010anchor synthesis, and PGAP<\/jats:styled-content>2<\/jats:italic>, which is involved in fatty\u2010acid GPI<\/jats:styled-content>\u2010anchor remodeling, are all causative for hyperphosphatasia with mental retardation syndrome (HPMRS<\/jats:styled-content>). Using whole exome sequencing, we identified novel compound heterozygous PIGO<\/jats:styled-content><\/jats:italic> mutations (c.389C>A [p.Thr130Asn] and c.1288C>T [p.Gln430*]) in two siblings, one of them having epileptic encephalopathy. GPI<\/jats:styled-content>\u2010anchored proteins (CD<\/jats:styled-content>16 and CD<\/jats:styled-content>24) on blood granulocytes were slightly decreased compared with a control and his mother. Our patients lacked the characteristic features of HPMRS<\/jats:styled-content>, such as facial dysmorphology (showing only a tented mouth) and hypoplasia of distal phalanges, and had only a mild elevation of serum alkaline phosphatase (ALP<\/jats:styled-content>). Our findings therefore expand the clinical spectrum of GPI<\/jats:styled-content>\u2010anchor deficiencies involving PIGO<\/jats:styled-content><\/jats:italic> mutations to include epileptic encephalopathy with mild elevation of ALP<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/epi.12508","type":"journal-article","created":{"date-parts":[[2014,1,13]],"date-time":"2014-01-13T23:02:48Z","timestamp":1389654168000},"source":"Crossref","is-referenced-by-count":48,"title":["PIGO<\/scp><\/i> mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels"],"prefix":"10.1111","volume":"55","author":[{"given":"Kazuyuki","family":"Nakamura","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Osaka","sequence":"additional","affiliation":[{"name":"Division of Neurology Clinical Research Institute Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Murakami","sequence":"additional","affiliation":[{"name":"Research Institute for Microbial Diseases and World Premier International Immunology Frontier Research Center Osaka University Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rie","family":"Anzai","sequence":"additional","affiliation":[{"name":"Division of Neurology Clinical Research Institute Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyomi","family":"Nishiyama","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Kodera","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuko","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taroh","family":"Kinoshita","sequence":"additional","affiliation":[{"name":"Research Institute for Microbial Diseases and World Premier International Immunology Frontier Research Center Osaka University Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama 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