De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy. Issue 12 (15th October 2013)

• Record Type: Journal Article
• Authors: Kodera, Hirofumi; Nakamura, Kazuyuki; Osaka, Hitoshi; Maegaki, Yoshihiro; Haginoya, Kazuhiro; Mizumoto, Shuji; Kato, Mitsuhiro; Okamoto, Nobuhiko; Iai, Mizue; Kondo, Yukiko; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Hayasaka, Kiyoshi; Sugahara, Kazuyuki; Yuasa, Isao; Wada, Yoshinao; Matsumoto, Naomichi; Saitsu, Hirotomo
• Is Part Of: Human mutation. Volume 34:Issue 12(2013:Dec.)
• Page Start: 1708
• Page End: 1714
• Publication Date: 2013-10-15
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22446
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22446-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Early onset epileptic encephalopathies (EOEE) are severe neurological disorders characterized by frequent seizures accompanied by developmental regression or retardation. In this study, we identified three de novo mutations in <italic>SLC35A2</italic> at Xp11.23 in 3 unrelated Japanese females with EOEE. <italic>SLC35A2</italic> encodes a UDP‐galactose transporter, which selectively supplies UDP‐galactose from the cytosol to the Golgi lumen, thus playing a role in glycosylation. Our results suggest that abnormal glycosylation is one of the pathological features of EOEE. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3wjb4x43" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>