Evidence map›Paper›PMID 41716732›Full record

ArticleAnnals of the Child Neurology Society2026

Epilepsy Phenotypic Spectrum of NUS1-Related Disorder: A Case Series.

Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of the Child Neurology Society, 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

7 authors.

Saumel AhmadiDivision of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.ORCID 0000-0002-5800-6945
Natalie FultonDivision of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.ORCID 0000-0002-4248-4635
Michael MorrisseyDivision of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Rebekah LandreDivision of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Stuart TomkoDivision of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Fumihiko UranoDepartment of Medicine, Division of Endocrinology, Metabolism, and Lipid Research, Washington University School of Medicine, St. Louis, Missouri, USA.
Réjean M GuerrieroDivision of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.

Funding

Washington University Institute of Clinical and Translational Sciences (KL2) KL2TR002346 · NCATS · WASHINGTON UNIVERSITY · PI Dominic N Reeds · 2017 to 2026
$14.0M
NCATS NIH HHS KL2 TR002346
6 · The paper itself

Abstract

Background: Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%-2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. Methods: We describe a single-center case series of five patients with Results: In our cohort, three patients met the diagnostic criteria of EMAtS, and the remainder had a milder form of generalized epilepsy. Four patients had a pathogenic variant in Conclusion: Taken together,

Indexed as

Doose syndromeEEGepilepsyepilepsy with myoclonic atonic seizuresMEAID syndromeNUS1

Identifiers

PMID41716732
PMCPMC12914875

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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.