Evidence map›Paper›PMID 41993294›Full record

ArticlebioRxiv : the preprint server for biology2026

Somatic variants activating the RAS-MAPK pathway confer susceptibility to hippocampal sclerosis in drug-resistant epilepsy.

Lauren Mashburn-Warren, Ashton Holub, Sahibjot Sran, Swetha Ramadesikan, Keaton R Suh, Allison Thompson, James J Anderson, Adithe Rivaldi, Ari R Zavarella, Megan Chandler and 14 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2026. 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

24 authors.

Lauren Mashburn-WarrenInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Ashton HolubInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Sahibjot SranInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Swetha RamadesikanInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Keaton R SuhInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Allison ThompsonInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
James J AndersonInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Adithe RivaldiInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Ari R ZavarellaInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Megan ChandlerInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Allison DaleyInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Corinne H StrawserInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Elizabeth A R GarfinkleInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Jonathan PindrikDepartment of Neurosurgery, Nationwide Children's Hospital, Columbus, Ohio, USA.
Ammar ShaikhouniDepartment of Neurosurgery, Nationwide Children's Hospital, Columbus, Ohio, USA.
Jeffrey LeonardDepartment of Neurosurgery, Nationwide Children's Hospital, Columbus, Ohio, USA.
Daniel R BouéDepartment of Pathology, The Ohio State University College of Medicine, Columbus, Ohio, USA.
Diana L ThomasDepartment of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
Christopher R PiersonDepartment of Pathology, The Ohio State University College of Medicine, Columbus, Ohio, USA.
Elaine R MardisInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.ORCID 0000-0002-5892-1553
Katherine E MillerInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Adam P OstendorfDepartment of Pediatrics, The Ohio State University, Columbus, OH.ORCID 0000-0002-9994-6650
Daniel C KoboldtInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Tracy A BedrosianInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

Funding

Deciphering brain mosaicism in drug-resistant epilepsy at cellular resolutionR01NS129784 · NINDS · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI Tracy Ann Bedrosian · 2023 to 2026
$2.2M
NINDS NIH HHS R01 NS129784
6 · The paper itself

Abstract

Hippocampal sclerosis is a frequent finding in pediatric epilepsy surgery and has traditionally been regarded as an acquired lesion. It commonly co-occurs with focal cortical dysplasia (FCD IIIa), yet whether hippocampal injury is secondary to seizures or reflects a shared underlying etiology remains unresolved. Here we identified somatic variants activating the RAS-MAPK pathway in 40% of patients with hippocampal sclerosis, but in none with non-sclerotic hippocampus. Gain-of-function variants in

Indexed as

brain mosaicismcortical dysplasiahippocampusp38-MAPKpediatrics

Identifiers

PMID41993294
PMCPMC13082087

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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 OpenQuestion graph.