@article{7a78fe2b38854df28ca8d46f169cadc5,
title = "Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy",
abstract = "Mis-secreted glycoproteins (LGI1, reelin) are emerging causes of epilepsy. LMAN2L belongs to a glycoprotein secretion chaperone family. One recessive LMAN2L missense mutation predicted to impair the chaperone's interaction with glycoproteins was reported in a family with intellectual disability (ID) and remitting epilepsy. We describe four members of a family with autosomal dominant inheritance of a similar phenotype. We show that they segregate a NM_001142292.1:c.1073delT mutation that eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane. LMAN2L mislocalization, like impaired glycoprotein interaction, disturbs brain development, including generation of developmentally restricted epilepsy.",
author = "Alkhater, {Reem A.} and Peixiang Wang and Alessandra Ruggieri and Lori Israelian and Susan Walker and Scherer, {Stephen W.} and Smith, {Mary Lou} and Minassian, {Berge A.}",
note = "Funding Information: Minassian holds patents for diagnostic testing of the following genes: EPM2A, EPM2B, MECP2, and VMA21; has received research support from National Institutes of Health (NIH); and has received license fee payments/royalty payments from patents for diagnostic testing of the following genes: EPM2A, EPM2B, MECP2, and VMA21. Funding Information: This work was supported by the Ontario Brain Institute, Genome Canada and the University of Toronto Michael Bahen Chair in Epilepsy Research and the University of Texas Southwestern Jimmy Elizabeth Wescott Chair in Pediatric Neurology. Publisher Copyright: {\textcopyright} 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.",
year = "2019",
month = apr,
doi = "10.1002/acn3.727",
language = "English (US)",
volume = "6",
pages = "807--811",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "John Wiley and Sons Inc.",
number = "4",
}