ArticleMovement disorders : official journal of the Movement Disorder Society2024
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Article in Movement disorders : official journal of the Movement Disorder Society, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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16 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.Expert reviews in molecular medicine · 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
- An accidental scientist's journey from an uncertain beginning to advancing neurogenetics research in Africa.Nature genetics · 2026Article
- 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
- 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
- Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.Nature reviews. Neurology · 2025Review
- Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes.Epilepsia open · 2025Review
- STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.Genome medicine · 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
- Phenotypic and genotypic characterization of familial adult myoclonus epilepsy in a Chinese case series.Brain communications · 2025Article
- Novel, complex configurations of theBrain communications · 2025Article
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20 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundBenign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by pentanucleotide repeat expansions in different genes, have been reported. However, several other BAFME cases remain with no molecular diagnosis.
objectivesWe aim to characterize clinical features and identify the mutation causing BAFME in a large Malian family with 10 affected members.
methodsLong-read whole genome sequencing, repeat-primed polymerase chain reaction and RNA studies were performed.
resultsWe identified TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1 gene that co-segregated with disease status in this family. TTTCA repeats were absent in 200 Malian controls. In the affected individuals, we found a read with only nine TTTCA repeat units and somatic instability. The RAI1 repeat expansions cause the only BAFME type in which the disease-causing repeats are in a gene associated with a monogenic disorder in the haploinsufficiency state (ie, Smith-Magenis syndrome [SMS]). Nevertheless, none of the Malian patients exhibited symptoms related to SMS. Moreover, leukocyte RNA levels of RAI1 in six Malian BAFME patients were no different from controls.
conclusionsThese findings establish a new type of BAFME, BAFME8, in an African family and suggest that haploinsufficiency is unlikely to be the main pathomechanism of BAFME. © 2023 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
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