@article{f3ec064514a14d7293955afaabde8aff,
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 Kosuke Izumi",
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 (US)",
volume = "10",
pages = "1046--1053",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "John Wiley and Sons Inc.",
number = "6",
}