@article{430fa90abbb5465b8290f1a5f2d82882,
title = "Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome",
abstract = "SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L-serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) syndrome, but individuals with heterozygous variants are not thought to have disease. We identify an 8-year-old patient with global developmental delay, spasticity, epilepsy, and microcephaly who has a de novo heterozygous three amino acid duplication in SLC1A4 (L86_M88dup). We demonstrate that L86_M88dup causes a dominant-negative N-glycosylation defect of SLC1A4, which in turn reduces the plasma membrane localization of SLC1A4 and the transport rate of SLC1A4 for L-serine.",
author = "{University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN)} and Jonai Pujol-Gim{\'e}nez and Ghayda Mirzaa and Blue, {Elizabeth E.} and Giuseppe Albano and Miller, {Danny E.} and Aimee Allworth and Bennett, {James T.} and Byers, {Peter H.} and Sirisak Chanprasert and Jingheng Chen and Daniel Doherty and Folta, {Andrew B.} and Gillentine, {Madelyn A.} and Ian Glass and Anne Hing and Martha Horike-Pyne and Leppig, {Kathleen A.} and Azma Parhin and Jane Ranchalis and Raskind, {Wendy H.} and Rosenthal, {Elisabeth A.} and Ulrike Schwarze and Sam Sheppeard and Samuel Strohbehn and Sybert, {Virginia P.} and Andrew Timms and Mark Wener and Bamshad, {Michael J.} and Leal, {Suzanne M.} and Nickerson, {Deborah A.} and Peter Anderson and Bacus, {Tamara J.} and Blue, {Elizabeth E.} and Katherine Brower and Buckingham, {Kati J.} and Chong, {Jessica X.} and S{\'a}nchez, {Diana Cornejo} and Davis, {Colleen P.} and Davis, {Chayna J.} and Frazar, {Christian D.} and Katherine Gomeztagle-Burgess and Gordon, {William W.} and Martha Horike-Pyne and Hurless, {Jameson R.} and Jarvik, {Gail P.} and Eric Johanson and Kolar, {J. Thomas} and Marvin, {Colby T.} and Sean McGee and McGoldrick, {Daniel J.} and Betselote Mekonnen and Nielsen, {Patrick M.} and Karynne Patterson and Aparna Radhakrishnan and Richardson, {Matthew A.} and Roote, {Gwendolin T.} and Ryke, {Erica L.} and Isabelle Schrauwen and Shively, {Kathryn M.} and Smith, {Joshua D.} and Monica Tackett and Gao Wang and Weiss, {Jeffrey M.} and Wheeler, {Marsha M.} and Qian Yi and Xiaohong Zhang and Acosta, {Maria T.} and Margaret Adam and Adams, {David R.} and Alvarez, {Raquel L.} and Justin Alvey and Laura Amendola and Ashley Andrews and Ashley, {Euan A.} and Bacino, {Carlos A.} and Guney Bademci and Ashok Balasubramanyam and Dustin Baldridge and Jim Bale and Michael Bamshad and Deborah Barbouth and Pinar Bayrak-Toydemir and Anita Beck and Beggs, {Alan H.} and Edward Behrens and Gill Bejerano and Bellen, {Hugo J.} and Jimmy Bennett and Beverly Berg-Rood and Bernstein, {Jonathan A.} and Berry, {Gerard T.} and Anna Bican and Stephanie Bivona and Elizabeth Blue and John Bohnsack and Devon Bonner and Lorenzo Botto and Brenna Boyd and Briere, {Lauren C.} and Gabrielle Brown and Burke, {Elizabeth A.} and Burrage, {Lindsay C.} and Butte, {Manish J.} and Peter Byers and Byrd, {William E.} and John Carey and Olveen Carrasquillo and Thomas Cassini and Chang, {Ta Chen Peter} and Sirisak Chanprasert and Chao, {Hsiao Tuan} and Clark, {Gary D.} and Coakley, {Terra R.} and Cobban, {Laurel A.} and Cogan, {Joy D.} and Matthew Coggins and Cole, {F. Sessions} and Colley, {Heather A.} and Heidi Cope and Rosario Corona and Craigen, {William J.} and Crouse, {Andrew B.} and Michael Cunningham and Precilla D'Souza and Hongzheng Dai and Surendra Dasari and Joie Davis and Dayal, {Jyoti G.} and Dell'Angelica, {Esteban C.} and Katrina Dipple and Daniel Doherty and Naghmeh Dorrani and Doss, {Argenia L.} and Douine, {Emilie D.} and Dawn Earl and Eckstein, {David J.} and Emrick, {Lisa T.} and Eng, {Christine M.} and Marni Falk and Fieg, {Elizabeth L.} and Fisher, {Paul G.} and Fogel, {Brent L.} and Irman Forghani and Gahl, {William A.} and Ian Glass and Bernadette Gochuico and Goddard, {Page C.} and Godfrey, {Rena A.} and Katie Golden-Grant and Alana Grajewski and Don Hadley and Sihoun Hahn and Halley, {Meghan C.} and Rizwan Hamid and Kelly Hassey and Nichole Hayes and Frances High and Anne Hing and Hisama, {Fuki M.} and Holm, {Ingrid A.} and Jason Hom and Martha Horike-Pyne and Alden Huang and Sarah Hutchison and Wendy Introne and Rosario Isasi and Kosuke Izumi and Fariha Jamal and Jarvik, {Gail P.} and Jeffrey Jarvik and Suman Jayadev and Orpa Jean-Marie and Vaidehi Jobanputra and Lefkothea Karaviti and Shamika Ketkar and Dana Kiley and Gonench Kilich and Kobren, {Shilpa N.} and Kohane, {Isaac S.} and Kohler, {Jennefer N.} and Susan Korrick and Mary Kozuira and Deborah Krakow and Krasnewich, {Donna M.} and Elijah Kravets and Lalani, {Seema R.} and Byron Lam and Christina Lam and Lanpher, {Brendan C.} and Lanza, {Ian R.} and Kimberly LeBlanc and Lee, {Brendan H.} and Roy Levitt and Lewis, {Richard A.} and Pengfei Liu and Stephen Pak and Timothy Schedl and Jimann Shin and Lilianna Solnica-Krezel and Jennifer Wambach",
note = "Publisher Copyright: {\textcopyright} 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.",
year = "2023",
month = jun,
doi = "10.1002/acn3.51786",
language = "English",
volume = "10",
pages = "1046--1053",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
number = "6",
}