ArticleNature genetics2018
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
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Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 173 papers, 1 of them a synthesis that pooled it.
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173citing papers in PubMed, 1 pooled it
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Who cites it
173 citing papers in PubMed, 1 synthesis or guideline pooled it, 331 citations in OpenAlex.
- Decoding the Alphabet Soup: A Practical Guide to Genetic Testing in Hyperkinetic Movement Disorders.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Pooled it
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Long-read sequencing for neurological disorders: opportunities, challenges, and future directions.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- criTRia: A Classification System and Evidence Criteria for Tandem Repeat Locus-Disease Relationships.medRxiv : the preprint server for health sciences · 2026Article
- Pentanucleotide repeat instability and transmission in benign adult familial myoclonic epilepsy types 1, 4, and 8.Epilepsia · 2026Article
- A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric Disorders.Journal of molecular neuroscience : MN · 2026Article
- A family portrait of the genomic factors shaping tandem repeat mutagenesis.bioRxiv : the preprint server for biology · 2026Article
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- Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Embryonic spinocerebellar ataxia type 37-associated AUUUC repeat RNA causes neurodevelopmental defects.Disease models & mechanisms · 2026Article
- The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.Cell reports · 2026Article
- Genetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy.Epilepsy currents · 2026Review
- Computational tools for tandem repeat detection using long-read sequencing.Briefings in bioinformatics · 2026Review
- Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.BMC medical genomics · 2025Article
- Myoclonus.Movement disorders clinical practice · 2025Article
- Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice.Epilepsia · 2025Review
- Diverse short tandem repeat sequences influence gene regulation in human populations.Genome biology · 2025Article
- First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.Neurogenetics · 2025Article
- A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Barriers to clinical genetic testing in movement disorders.Current opinion in neurology · 2025Review
113 more citing papers are in PubMed but not listed here.
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Authors and funding
67 authors at 20 institutions in 1 country.
Hiroyuki IshiuraDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.ORCID http://orcid.org/0000-0003-2975-7309
Koichiro DoiDepartment of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
Jun MitsuiDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.ORCID http://orcid.org/0000-0001-7425-4765
Jun YoshimuraDepartment of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
Miho Kawabe MatsukawaDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Asao FujiyamaAdvanced Genomics Center, National Institute of Genetics, Shizuoka, Japan.
Yasuko ToyoshimaDepartment of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.
Akiyoshi KakitaDepartment of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.
Hitoshi TakahashiDepartment of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.
Yutaka SuzukiDepartment of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
Sumio SuganoDepartment of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Wei QuDepartment of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
Kazuki IchikawaDepartment of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
Hideaki YurinoDepartment of Laboratory Medicine, Graduate School of Medical Sciences, Kanazawa University, Ishikawa, Japan.
Koichiro HigasaHuman Disease Genomics, Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Shota ShibataDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Aki MitsueDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Masaki TanakaDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Yaeko IchikawaDepartment of Neurology, Kyorin University, Tokyo, Japan.
Yuji TakahashiDepartment of Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
Hidetoshi DateDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Takashi MatsukawaDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Junko KandaDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Fumiko Kusunoki NakamotoDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Mana HigashiharaDepartment of Neurology, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan.
Koji AbeDepartment of Neurology, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University, Okayama, Japan.
Ryoko KoikeDepartment of Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
Mutsuo SasagawaDepartment of Psychiatry, Toyosato Hospital, Ibaraki, Japan.
Yasuko KurohaDepartment of Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
Naoya HasegawaDepartment of Epilepsy, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
Norio KanesawaDivision of Cardiology, National Hospital Organization Takasaki General Medical Center, Gunma, Japan.
Takayuki KondoDepartment of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Takefumi HitomiDepartment of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Masayoshi TadaDepartment of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
Hiroki TakanoDepartment of Neurology, Tachikawa General Hospital, Niigata, Japan.
Yutaka SaitoDepartment of Neurology, Sannocho Hospital, Niigata, Japan.
Kazuhiro SanpeiDepartment of Neurology, Sado General Hospital, Niigata, Japan.
Osamu OnoderaDepartment of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.ORCID http://orcid.org/0000-0003-3354-5472
Masatoyo NishizawaDepartment of Neurology, Niigata Medical Center, Niigata, Japan.
Masayuki NakamuraDepartment of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Takeshi YasudaDepartment of Neurology, Kurashikikinen Hospital, Okayama, Japan.
Yoshio SakiyamaDepartment of Neurology, Jichi Medical University, Saitama Medical Center, Saitama, Japan.ORCID http://orcid.org/0000-0001-5014-5177
Mieko OtsukaDepartment of Neurology, International University of Health and Welfare, Tochigi, Japan.
Akira Ueki
Ken-Ichi KaidaThird Department of Internal Medicine, National Defense Medical College, Saitama, Japan.
Jun ShimizuDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Ritsuko HanajimaDepartment of Neurology, School of Medicine, Kitasato University, Kanagawa, Japan.
Toshihiro HayashiDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Yasuo TeraoDepartment of Cell Physiology, School of Medicine, Kyorin University, Tokyo, Japan.
Satomi Inomata-TeradaDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Masashi HamadaDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Yuichiro ShirotaDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Akatsuki KubotaDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Yoshikazu UgawaDepartment of Neurology, Fukushima Medical University, Fukushima, Japan.
Kishin KohDepartment of Neurology, University of Yamanashi, Yamanashi, Japan.
Yoshihisa TakiyamaDepartment of Neurology, University of Yamanashi, Yamanashi, Japan.
Natsumi Ohsawa-YoshidaDepartment of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, Tokyo, Japan.
Shoichi IshiuraDepartment of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, Tokyo, Japan.
Ryo YamasakiDepartment of Neurology, Neurological Institute, Faculty of Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Akira TamaokaDepartment of Neurology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
Hiroshi AkiyamaHiratsuka Hospital, Kanagawa, Japan.
Taisuke OtsukiEpilepsy Hospital Bethel Japan, Miyagi, Japan.
Akira SanoDepartment of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Akio IkedaDepartment of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Jun GotoDepartment of Neurology, International University of Health and Welfare Mita Hospital, Tokyo, Japan.
Shinichi MorishitaDepartment of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan.
Shoji TsujiDepartment of Neurology, The University of Tokyo Hospital, Tokyo, Japan. tsuji@m.u-tokyo.ac.jp.ORCID http://orcid.org/0000-0001-5602-5686
University of Tokyo Hospital · JPThe University of Tokyo · JPNiigata University · JPKyoto University · JPKagoshima University · JPNishi Niigata Chuo National Hospital · JPKyorin University · JPUniversity of Yamanashi · JPDoshisha University · JPFukushima Medical University · JPHiratsuka City Hospital · JPInternational University of Health and Welfare · JPJichi Medical University · JPKanazawa University · JPKitasato University · JPKurashiki Central Hospital · JPKyushu University · JPMita Hospital · JPNagara Medical Center · JPNational Center of Neurology and Psychiatry · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we show that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy (BAFME). Single-molecule, real-time sequencing of BAC clones and nanopore sequencing of genomic DNA identified two repeat configurations in SAMD12. Intriguingly, in two families with a clinical diagnosis of BAFME in which no repeat expansions in SAMD12 were observed, we identified similar expansions of TTTCA and TTTTA repeats in introns of TNRC6A and RAPGEF2, indicating that expansions of the same repeat motifs are involved in the pathogenesis of BAFME regardless of the genes in which the expanded repeats are located. This discovery that expansions of noncoding repeats lead to neuronal dysfunction responsible for myoclonic tremor and epilepsy extends the understanding of diseases with such repeat expansion.
Indexed as
DNA Repeat ExpansionMicrosatellite RepeatsAdultAge of OnsetAutoantigensBase SequenceEpilepsies, MyoclonicFemaleGenomic InstabilityGuanine Nucleotide Exchange FactorsHumansIntronsMaleNerve Tissue ProteinsPedigreePurkinje CellsAutoantigensGuanine Nucleotide Exchange FactorsNerve Tissue ProteinsRAPGEF2 protein, humanRNA-Binding ProteinsSAMD12 protein, humanTNRC6A protein, human
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