Evidence map›Paper›PMID 41282912›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Somatic Mosaicism Patterns Define Clinical-Surgical Subtypes of Focal Cortical Dysplasia Through Cell-Type-Specific Expression.

Camila Araújo Bernardino Garcia, Muhammad Zubair, Xincen Xi, Ian Alfred Graham, Sang Hyun Lee, Sai Babu Patarlapalli, Marcelo Volpon Santos, Hélio Rubens Machado, Xiaoxu Yang

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

9 authors.

Camila Araújo Bernardino GarciaDepartment of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo (USP), Ribeirao Preto, SP, Brazil.
Muhammad ZubairDepartment of Human Genetics, Utah Center for Genetic Discovery, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, 84112, USA.
Xincen XiDepartment of Human Genetics, Utah Center for Genetic Discovery, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, 84112, USA.
Ian Alfred GrahamDepartment of Human Genetics, Utah Center for Genetic Discovery, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, 84112, USA.
Sang Hyun LeeDepartment of Human Genetics, Utah Center for Genetic Discovery, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, 84112, USA.
Sai Babu PatarlapalliDepartment of Human Genetics, Utah Center for Genetic Discovery, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, 84112, USA.
Marcelo Volpon SantosDepartment of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo (USP), Ribeirao Preto, SP, Brazil.
Hélio Rubens MachadoDepartment of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo (USP), Ribeirao Preto, SP, Brazil.
Xiaoxu YangDepartment of Human Genetics, Utah Center for Genetic Discovery, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, 84112, USA.ORCID 0000-0003-0219-0023

Funding

Understanding genomic stability between generations by assessing mutational burdens in single spermsR00HD111686 · NICHD · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Xiaoxu Yang · 2025 to 2026
$498k
From genomics to natural language processing: A protected environment for research computing in the health scienceS10OD021644 · OD · UNIVERSITY OF UTAH · PI CHEATHAM, THOMAS E. · 2017 to 2017
$494k
Mechanisms controlling HIV latency and pathogenesis in microgliaR21MH134401 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SCHLACHETZKI, JOHANNES CAROLUS MAGNUS, YANG, XIAOXU · 2023 to 2023
$435k
NICHD NIH HHS R00 HD111686NIH HHS S10 OD021644NIMH NIH HHS R21 MH134401
6 · The paper itself

Abstract

Focal Cortical Dysplasia Type II (FCDII) is a subtype of cortical malfunction and is the primary cause of drug-resistant epilepsy in children. Although somatic mosaicism and clonal expansion of brain cells have been identified as crucial factors in FCD cases, the overall genetic landscape and clinical implications of FCDII remain largely unclear due to a significant gap in translating genetic data to inform surgical approaches and prognostic evaluations of individual cases. We carried out deep exome sequencing and deep amplicon validation of surgical biopsies and matched blood samples from 14 FCDII patients with confirmed neuropathology. We further performed multiscale pathogenic validations and took advantage of existing single-nucleus RNA sequencing and spatial maps from developing human cortices to explore the functionality of potential pathogenic somatic variants. We identified novel somatic variants in several functional categories, like neurotransmission (

Indexed as

Focal Cortical Dysplasia Type IImosaic fractionprecision surgerysingle-nucleus RNA-seq with spatial mappingsomatic mosaicism

Identifiers

PMID41282912
PMCPMC12632673

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Registered trials

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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 OpenQuestion graph.