Evidence map›Paper›PMID 38927738›Full record

ArticleGenes2024

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel

Alba Gabaldon-Albero, Lourdes Cordon, Amparo Sempere, Laia Pedrola, Carla Martin-Grau, Silvestre Oltra, Sandra Monfort, Alfonso Caro-Llopis, Marta Dominguez-Martinez, Sara Hernandez-Muela and 3 more

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

Article in Genes, 2024. 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

13 authors.

Alba Gabaldon-AlberoTranslational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.
Lourdes CordonHematology Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.ORCID 0000-0002-8808-3423
Amparo SempereHematology Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.
Laia PedrolaTranslational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.ORCID 0000-0002-3031-6124
Carla Martin-GrauTranslational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.ORCID 0000-0002-0442-819X
Silvestre OltraTranslational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.
Sandra MonfortTranslational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.
Alfonso Caro-LlopisTranslational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.
Marta Dominguez-MartinezTranslational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.
Sara Hernandez-MuelaPediatric Neurology Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain.
Monica RoselloTranslational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.
Carmen OrellanaTranslational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.ORCID 0000-0003-4271-5859
Francisco MartinezTranslational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.

Funding

Instituto de Salud Carlos III (ISCIII) PI22/00272Instituto de Salud Carlos III (ISCIII) PI22/01127
6 · The paper itself

Abstract

Germline variants in the phosphatidylinositol glycan class A (

Indexed as

Membrane ProteinsMuscle HypotoniaX Chromosome InactivationAbnormalities, MultipleHumansInfantMalePedigreeSeizuresMembrane Proteinsphosphatidylinositol glycan-class A proteindrug resistant epilepsyepileptic encephalopathyflow cytometryphosphatidylinositol glycan-class A proteinX-linked

Identifiers

PMID38927738
PMCPMC11203057

What OpenQuestion 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 OpenQuestion graph.