Evidence map›Paper›PMID 39005920›Full record

ArticleHeliyon2024

Clinical features and genetic analysis of developmental and epileptic encephalopathy caused by biallelic variants of

Xin-You Yu, Qing-Mei Sun, Rui-Ping Lu, Bo Wei, Xiao-Yan Wang, Li-Hua Pan

Abstract read
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Article in Heliyon, 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
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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

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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

6 authors.

Xin-You YuGerneral Hospital of Ningxia Medical University, Yin'chuan, Ningxia, 750004, China.
Qing-Mei SunGansu Province Maternal and Child Health Care Hospital, Lan'zhou, Gansu, 730000, China.
Rui-Ping LuGerneral Hospital of Ningxia Medical University, Yin'chuan, Ningxia, 750004, China.
Bo WeiGerneral Hospital of Ningxia Medical University, Yin'chuan, Ningxia, 750004, China.
Xiao-Yan WangGerneral Hospital of Ningxia Medical University, Yin'chuan, Ningxia, 750004, China.
Li-Hua PanGerneral Hospital of Ningxia Medical University, Yin'chuan, Ningxia, 750004, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To analyze the clinical features and genetic etiology of a patient with developmental and epileptic encephalopathy. Methods: The clinical information and peripheral blood of the patient and their family members were collected before the whole exome sequencing analysis was performed and Sanger sequencing was employed to verify the potential variant. Results: The patient presented with epilepsy and cerebral palsy with his parents, brother, and sister being all healthy. Whole exome sequencing analysis revealed that the child carried the paternal c.823del (p. R275Gfs*31) heterozygous variant and the maternal c.2456del (p.V819Gfs*190) heterozygous variant of the Conclusion: This study reported the first case of a child with neurodevelopmental disorder and epilepsy caused by a new compound heterozygous variant of the

Indexed as

CACNA1B geneDevelopmental and epileptic encephalopathyEpilepsyNeurodevelopmental disordersWhole exome sequencing

Identifiers

PMID39005920
PMCPMC11239463

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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.