ArticleNeurology. Genetics2023
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Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3citing papers in PubMed
1.3field-weighted citation impact, top 18% of its field
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- [Zhu-Tokita-Takenouchi-Kim syndrome in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.JCI insight · 2024Article
- A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesis.bioRxiv : the preprint server for biology · 2023Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Jordan LangfordUniversity of Utah School of Medicine, University of Utah (J.L.), Salt Lake City, UT; Department of Pathology, Division of Molecular and Cellular Pathology (L.V., E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL; Division of Medical Genetics (L.D.B.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT; Utah Center for Genetic Discovery, Eccles Institute of Human Genetics (M.V.), University of Utah School of Medicine; Department of Pathology (R.M.), University of Utah School of Medicine, Salt Lake City, UT; Division of Integrated Oncology and Genetics (R.M., C.E.M.), Molecular Genetics, ARUP Laboratories, Salt Lake City, UT; Division of Pediatric Neurology (F.F.), University of Utah School of Medicine, Salt Lake City, UT; and O'Neal Comprehensive Cancer Center (E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL.
Lana VukadinUniversity of Utah School of Medicine, University of Utah (J.L.), Salt Lake City, UT; Department of Pathology, Division of Molecular and Cellular Pathology (L.V., E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL; Division of Medical Genetics (L.D.B.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT; Utah Center for Genetic Discovery, Eccles Institute of Human Genetics (M.V.), University of Utah School of Medicine; Department of Pathology (R.M.), University of Utah School of Medicine, Salt Lake City, UT; Division of Integrated Oncology and Genetics (R.M., C.E.M.), Molecular Genetics, ARUP Laboratories, Salt Lake City, UT; Division of Pediatric Neurology (F.F.), University of Utah School of Medicine, Salt Lake City, UT; and O'Neal Comprehensive Cancer Center (E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL.
John C CareyUniversity of Utah School of Medicine, University of Utah (J.L.), Salt Lake City, UT; Department of Pathology, Division of Molecular and Cellular Pathology (L.V., E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL; Division of Medical Genetics (L.D.B.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT; Utah Center for Genetic Discovery, Eccles Institute of Human Genetics (M.V.), University of Utah School of Medicine; Department of Pathology (R.M.), University of Utah School of Medicine, Salt Lake City, UT; Division of Integrated Oncology and Genetics (R.M., C.E.M.), Molecular Genetics, ARUP Laboratories, Salt Lake City, UT; Division of Pediatric Neurology (F.F.), University of Utah School of Medicine, Salt Lake City, UT; and O'Neal Comprehensive Cancer Center (E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL.
Lorenzo D BottoUniversity of Utah School of Medicine, University of Utah (J.L.), Salt Lake City, UT; Department of Pathology, Division of Molecular and Cellular Pathology (L.V., E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL; Division of Medical Genetics (L.D.B.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT; Utah Center for Genetic Discovery, Eccles Institute of Human Genetics (M.V.), University of Utah School of Medicine; Department of Pathology (R.M.), University of Utah School of Medicine, Salt Lake City, UT; Division of Integrated Oncology and Genetics (R.M., C.E.M.), Molecular Genetics, ARUP Laboratories, Salt Lake City, UT; Division of Pediatric Neurology (F.F.), University of Utah School of Medicine, Salt Lake City, UT; and O'Neal Comprehensive Cancer Center (E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL.
Matt VelinderUniversity of Utah School of Medicine, University of Utah (J.L.), Salt Lake City, UT; Department of Pathology, Division of Molecular and Cellular Pathology (L.V., E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL; Division of Medical Genetics (L.D.B.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT; Utah Center for Genetic Discovery, Eccles Institute of Human Genetics (M.V.), University of Utah School of Medicine; Department of Pathology (R.M.), University of Utah School of Medicine, Salt Lake City, UT; Division of Integrated Oncology and Genetics (R.M., C.E.M.), Molecular Genetics, ARUP Laboratories, Salt Lake City, UT; Division of Pediatric Neurology (F.F.), University of Utah School of Medicine, Salt Lake City, UT; and O'Neal Comprehensive Cancer Center (E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL.
Rong MaoUniversity of Utah School of Medicine, University of Utah (J.L.), Salt Lake City, UT; Department of Pathology, Division of Molecular and Cellular Pathology (L.V., E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL; Division of Medical Genetics (L.D.B.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT; Utah Center for Genetic Discovery, Eccles Institute of Human Genetics (M.V.), University of Utah School of Medicine; Department of Pathology (R.M.), University of Utah School of Medicine, Salt Lake City, UT; Division of Integrated Oncology and Genetics (R.M., C.E.M.), Molecular Genetics, ARUP Laboratories, Salt Lake City, UT; Division of Pediatric Neurology (F.F.), University of Utah School of Medicine, Salt Lake City, UT; and O'Neal Comprehensive Cancer Center (E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL.
Christine E MillerUniversity of Utah School of Medicine, University of Utah (J.L.), Salt Lake City, UT; Department of Pathology, Division of Molecular and Cellular Pathology (L.V., E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL; Division of Medical Genetics (L.D.B.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT; Utah Center for Genetic Discovery, Eccles Institute of Human Genetics (M.V.), University of Utah School of Medicine; Department of Pathology (R.M.), University of Utah School of Medicine, Salt Lake City, UT; Division of Integrated Oncology and Genetics (R.M., C.E.M.), Molecular Genetics, ARUP Laboratories, Salt Lake City, UT; Division of Pediatric Neurology (F.F.), University of Utah School of Medicine, Salt Lake City, UT; and O'Neal Comprehensive Cancer Center (E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL.
Francis FillouxUniversity of Utah School of Medicine, University of Utah (J.L.), Salt Lake City, UT; Department of Pathology, Division of Molecular and Cellular Pathology (L.V., E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL; Division of Medical Genetics (L.D.B.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT; Utah Center for Genetic Discovery, Eccles Institute of Human Genetics (M.V.), University of Utah School of Medicine; Department of Pathology (R.M.), University of Utah School of Medicine, Salt Lake City, UT; Division of Integrated Oncology and Genetics (R.M., C.E.M.), Molecular Genetics, ARUP Laboratories, Salt Lake City, UT; Division of Pediatric Neurology (F.F.), University of Utah School of Medicine, Salt Lake City, UT; and O'Neal Comprehensive Cancer Center (E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL.
Eun-Young Erin AhnUniversity of Utah School of Medicine, University of Utah (J.L.), Salt Lake City, UT; Department of Pathology, Division of Molecular and Cellular Pathology (L.V., E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL; Division of Medical Genetics (L.D.B.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT; Utah Center for Genetic Discovery, Eccles Institute of Human Genetics (M.V.), University of Utah School of Medicine; Department of Pathology (R.M.), University of Utah School of Medicine, Salt Lake City, UT; Division of Integrated Oncology and Genetics (R.M., C.E.M.), Molecular Genetics, ARUP Laboratories, Salt Lake City, UT; Division of Pediatric Neurology (F.F.), University of Utah School of Medicine, Salt Lake City, UT; and O'Neal Comprehensive Cancer Center (E.-Y.E.A.), University of Alabama at Birmingham, Birmingham, AL.
University of Alabama at Birmingham · USARUP Laboratories (United States) · USCenter for Human Genetics · USUniversity of Utah · US
Funding
SON-mediated RNA splicing in glioblastomaR01CA236911 · NCI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI AHN, ERIN EUN-YOUNG · 2020 to 2024
$1.8MSON-mediated gene expression and leukemiaR01CA190688 · NCI · UNIVERSITY OF SOUTH ALABAMA · PI AHN, ERIN EUN-YOUNG · 2016 to 2021
$1.7MNCI NIH HHS R01 CA190688NCI NIH HHS R01 CA236911
Abstract
Background and Objectives: Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome (OMIM 617140) is a recently identified neurodevelopmental disorder caused by heterozygous loss-of-function (LoF) variants in Methods: We identified a patient with a pathogenic variant in Results: Recurrent episodes of hemiplegic migraine in our patient typically followed modest closed head injuries, and recurrent seizures occurred during the most severe of these episodes. Transient hemispheric cortical interstitial edema and asymmetric EEG slowing were identified during episodes. Our siRNA experiments revealed that Discussion: This report identifies recurrent hemiplegic migraine as a novel clinical manifestation of ZTTK syndrome, further characterizes this clinical feature, and provides evidence for downregulation of
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