ArticleNature communications2019
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
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Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 1 of them a synthesis that pooled it.
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86citing papers in PubMed, 1 pooled it
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Who cites it
86 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 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
- Pentanucleotide repeat instability and transmission in benign adult familial myoclonic epilepsy types 1, 4, and 8.Epilepsia · 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
- Article
- Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.BMC medical genomics · 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
- Intronic hexanucleotide repeat expansion inBiomedical reports · 2025Article
- Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Multisample motif discovery and visualization for tandem repeats.Genome research · 2025Article
- Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes.Epilepsia open · 2025Review
- Behavioral Abnormalities, Cognitive Impairments, Synaptic Deficits, and Gene Replacement Therapy in a CRISPR Engineered Rat Model of 5p15.2 Deletion Associated With Cri du Chat Syndrome.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus.European journal of human genetics : EJHG · 2025Article
- Systematic study of hybrid triplex topology and stability suggests a general triplex-mediated regulatory mechanism.Nucleic acids research · 2025Article
- Novel, complex configurations of theBrain communications · 2025Article
26 more citing papers are in PubMed but not listed here.
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Authors and funding
53 authors.
Rahel T FlorianInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
Florian KraftInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, 52062, Aachen, Germany.ORCID http://orcid.org/0000-0002-5324-9155
Elsa LeitãoInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.ORCID http://orcid.org/0000-0001-5051-9714
Sabine KayaInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
Stephan KlebeDepartment of Neurology, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
Eloi MagninDepartment of Neurology, CHU Jean Minjoz, 25000, Besançon, France.
Anne-Fleur van RootselaarDepartments of Neurology and Clinical Neurophysiology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-8376-9098
Julien BurattiAP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.ORCID http://orcid.org/0000-0002-0901-0905
Theresa KühnelInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
Christopher SchröderInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
Sebastian GiesselmannInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, 52062, Aachen, Germany.
Nikolai TschernosterCologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Weyertal 115b, 50931, Cologne, Germany.
Janine AltmuellerCologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Weyertal 115b, 50931, Cologne, Germany.
Anaide LamiralDepartment of Neurology, CHU Jean Minjoz, 25000, Besançon, France.ORCID http://orcid.org/0000-0001-7524-6222
Boris KerenAP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.
Caroline NavaAP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.
Delphine BouteillerInstitut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.
Sylvie ForlaniInstitut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.
Ludmila JorneaInstitut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.
Regina KubicaInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
Tao YeIGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg, 1 Rue Laurent Fries, 67400, Illkirch-Graffenstaden, France.ORCID http://orcid.org/0000-0002-3394-2083
Damien PlassardIGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg, 1 Rue Laurent Fries, 67400, Illkirch-Graffenstaden, France.ORCID http://orcid.org/0000-0001-8569-6163
Bernard JostIGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg, 1 Rue Laurent Fries, 67400, Illkirch-Graffenstaden, France.
Vincent MeyerCentre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France.
Jean-François DeleuzeCentre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France.
Yannick DelpuGenomic Vision, 80 Rue des Meuniers, 92220, Bagneux, France.
Mario D M AvarelloGenomic Vision, 80 Rue des Meuniers, 92220, Bagneux, France.
Lisanne S VijfhuizenDepartment of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands.
Gabrielle RudolfIGBMC, CNRS UMR 7104/INSERM U1258/Université de Strasbourg, 1 Rue Laurent Fries, 67400, Illkirch-Graffenstaden, France.ORCID http://orcid.org/0000-0002-2050-3911
Edouard HirschDepartment of Neurology-centre de référence des epilepsies rares, University Hospital of Strasbourg, 1 Avenue Molière, 67200, Strasbourg, France.
Thessa KroesSchool of Biological Sciences, School of Medicine and Robinson Research Institute, The University of Adelaide, Adelaide, 5005, SA, Australia.
Philipp S ReifEpilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), 60323, Frankfurt am Main, Germany.
Felix RosenowEpilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), 60323, Frankfurt am Main, Germany.
Christos GanosDepartment of Neurology, Charité University Medicine Berlin, 10117, Berlin, Germany.
Marie VidailhetInstitut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.
Lionel ThivardAPHP, Hôpital Pitié-Salpêtrière, Département de Neurologie, 75013, Paris, France.
Alexandre MathieuHuman Genetics and Cognitive Functions, Pasteur Institute, UMR3571 CNRS, Université de Paris, 75015, Paris, France.
Thomas BourgeronHuman Genetics and Cognitive Functions, Pasteur Institute, UMR3571 CNRS, Université de Paris, 75015, Paris, France.
Ingo KurthInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, 52062, Aachen, Germany.ORCID http://orcid.org/0000-0002-5642-8378
Haloom RafehiPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.
Laura SteenpassInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
Bernhard HorsthemkeInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.ORCID http://orcid.org/0000-0002-8598-8147
FAME consortium
Eric LeGuernAP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.
Karl Martin KleinEpilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), 60323, Frankfurt am Main, Germany.ORCID http://orcid.org/0000-0002-6654-1665
Pierre LabaugeDepartment of Neurology, Gui de Chauliac University Hospital, 34295, Montpellier, France.ORCID http://orcid.org/0000-0001-7759-8555
Mark F BennettPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.ORCID http://orcid.org/0000-0002-3561-6804
Melanie BahloPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.ORCID http://orcid.org/0000-0001-5132-0774
Jozef GeczSchool of Biological Sciences, School of Medicine and Robinson Research Institute, The University of Adelaide, Adelaide, 5005, SA, Australia.ORCID http://orcid.org/0000-0002-7884-6861
Mark A CorbettSchool of Biological Sciences, School of Medicine and Robinson Research Institute, The University of Adelaide, Adelaide, 5005, SA, Australia.ORCID http://orcid.org/0000-0001-9298-3072
Marina A J TijssenDepartment of Neurology, University Medical Center Groningen, University of Groningen, 9700, AB, Groningen, the Netherlands.ORCID http://orcid.org/0000-0001-5783-571X
Arn M J M van den MaagdenbergDepartment of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands.
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany. christel.depienne@uni-due.de.ORCID http://orcid.org/0000-0002-7212-9554
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements.
Indexed as
DNA Repeat ExpansionAdolescentAdultAgedChromosome MappingEpilepsies, MyoclonicFemaleHumansIntronsMaleMembrane ProteinsMiddle AgedPedigreeUbiquitin-Protein LigasesYoung AdultMARCHF6 protein, humanMembrane ProteinsUbiquitin-Protein Ligases
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