Evidence map›Paper›PMID 42220679›Full record

ArticleCureus2026

Resistant Epilepsy and Developmental Delay in a Syndromic Infant: A Case of Congenital Disorder of Glycosylation Type Ik From India.

Shambhavi Trivedi, Jyoti C Suvarna, Durga Patel, Purnima Nair, Salil Vaniawala, Pramila Menon, Vasundhara Tamhankar, Parag M Tamhankar

Abstract readCase Reports
In one paragraph

Article in Cureus, 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

8 authors.

Shambhavi TrivediPediatrics, Holy Spirit Hospital, Mumbai, IND.
Jyoti C SuvarnaPediatrics, Holy Spirit Hospital, Mumbai, IND.
Durga PatelPediatrics, Holy Spirit Hospital, Mumbai, IND.
Purnima NairPediatrics, Holy Spirit Hospital, Mumbai, IND.
Salil VaniawalaGenetics, SN Gene Lab Pvt Ltd, Surat, IND.
Pramila MenonPediatrics, Dr. D. Y. Patil Medical College, Hospital, and Research Centre, Pune, IND.
Vasundhara TamhankarGenetics, Centre for Medical Genetics, Mumbai, IND.
Parag M TamhankarGenetics, SN Gene Lab Pvt Ltd, Surat, IND.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Type I congenital disorder of glycosylation (CDG) is a group of genetic disorders that affect the biosynthesis of dolichol-linked oligosaccharides or the transfer of oligosaccharides onto nascent glycoproteins. Mutations in the

Indexed as

alg1autosomal recessive disorderscongenital disorder of glycosylationfrom indiawhole-exome sequencing (wes)

Identifiers

PMID42220679
PMCPMC13218555

What OpenQuestion holds

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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.