Evidence map›Paper›PMID 40788430›Full record

ArticleNeurogenetics2025

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.

B Lakshitha A Perera, Russell Stewart, Yutaka Furuta, Kimberly M Ezell, Lynette Rives, Bethany Nunley, Ashley McMinn, Alyson Krokosky, Serena Neumann, Mary E Koziura and 7 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

B Lakshitha A PereraDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. blakshitha.perera@vumc.org.
Russell StewartVanderbilt University School of Medicine, Nashville, TN, USA.
Yutaka FurutaDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Kimberly M EzellDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Lynette RivesDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Bethany NunleyDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Ashley McMinnDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Alyson KrokoskyDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Serena NeumannDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Mary E KoziuraDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Undiagnosed Diseases Network
Rizwan HamidDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Joy D CoganDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Thomas A CassiniDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Eric R GamazonDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
John A Phillips IiiDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Rory J TinkerDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. rory.tinker@vumc.org.

Funding

Gene Expression Regulation in Brains of East Asian, African, and European Descent Explains Schizophrenia GWAS in Diverse Populations.R01MH126459 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI Chunyu Liu · 2022 to 2026
$3.7M
Haplotype-aware models of gene and isoform expression with application to genetic studies of disease in diverse populationsR01GM140287 · NIGMS · SEATTLE CHILDREN'S HOSPITAL · PI GAMAZON, ERIC R, MOHAMMADI, PEJMAN · 2021 to 2024
$2.8M
Advancing Multi-Omics and Electronic Health Records Computational MethodologiesR01HG011138 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GAMAZON, ERIC R · 2020 to 2024
$1.6M
Genomic Basis of Telomere Length Regulation and Consequences for Complex TraitsR56AG089926 · NIA · VANDERBILT UNIVERSITY MEDICAL CENTER · PI COGAN, JOY D, GAMAZON, ERIC R · 2024 to 2024
$430k
NHGRI NIH HHS R01 HG011138NIA NIH HHS R56 AG089926NIGMS NIH HHS R01 GM140287NIMH NIH HHS R01 MH126459
6 · The paper itself

Abstract

Familial Adult Myoclonic Epilepsy type 3 (FAME3) is a rare autosomal dominant disorder characterized by cortical tremor and epilepsy, caused by a noncoding pentanucleotide repeat expansion (TTTTA/TTTCA)

Indexed as

DNA Repeat ExpansionEpilepsies, MyoclonicAllelesFemaleGenetic TestingHumansMiddle AgedMosaicismPedigreeWhole Genome SequencingFAME3Long-read sequencingMARCHF6Repeat expansion disordersSomatic mosaicism

Identifiers

PMID40788430
PMCPMC12339610

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.