ArticleEpilepsia open2023
A novel FAME1 repeat configuration in a European family identified using a combined genomics approach.
Article in Epilepsia open, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 21 citations in OpenAlex.
- Pentanucleotide repeat instability and transmission in benign adult familial myoclonic epilepsy types 1, 4, and 8.Epilepsia · 2026Article
- Whole genome sequencing revealed genetic diversity, population structure, and selective signature of Tianhua mutton sheep.BMC genomics · 2026Article
- The continued promise of genomic technologies and software in neurogenetics.Journal of neuromuscular diseases · 2025Review
- Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy.Epilepsia · 2025Article
- Phenotypic and genotypic characterization of familial adult myoclonus epilepsy in a Chinese case series.Brain communications · 2025Article
- Novel, complex configurations of theBrain communications · 2025Article
- Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.EBioMedicine · 2024Article
- Keratinocytes drive the epithelial hyperplasia key to sea lice resistance in coho salmon.BMC biology · 2024Article
- Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.Nature reviews. Genetics · 2024Review
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.Life science alliance · 2024Article
- Advances in the discovery and analyses of human tandem repeats.Emerging topics in life sciences · 2023Review
- Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.Epilepsia · 2023Review
- A novel FAME1 repeat configuration in a European family identified using a combined genomics approach.Epilepsia open · 2023Article
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial adult myoclonic epilepsy (FAME) is an adult-onset neurological disease characterized by cortical tremor, myoclonus, and seizures due to a pentanucleotide repeat expansion: a combination of pathogenic TTTCA expansion associated with a TTTTA repeat in introns of six different genes. Repeat-primed PCR (RP-PCR) is an inexpensive test for expansions at known loci. The analysis of the SAMD12 locus revealed that the repeats have different size, configuration, and composition. The TTTCA repeats can be very long (>1000 repeats) but also very short (14 being the shortest identified). Here, we report siblings of European descent with the clinical diagnosis of FAME yet a negative RP-PCR test. Using short-read genome sequencing, we identified the pentanucleotide expansion in intron 4 of SAMD12, which was confirmed by CRIPSR-Cas9-mediated enrichment and long-read sequencing to be of (TTTTA)
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