Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

[Clinical and genetic analysis of a child with West syndrome due to a de novo variant of NEXMIF gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2024

He Wen, Liang Yan, Yan Huimin, Wan Lin, Yang Guang

Abstract excerpt

OBJECTIVE: To investigate the clinical features and genetic variant of a child with West syndrome due to a variant of NEXMIF gene. METHODS: A child who was admitted to the First Medical Center of Chinese PLA General Hospital in March 2021 was selected as the study subject. Clinical data of the patient was collected. The child and his parents were subjected to whole exome sequencing. Candidate variant was verified...

Topics

Join the communities discussing this publication.

Exome Sequencing
Genetic Testing
Infant
Mutation
Spasms, Infantile

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38818558
DOI: 10.3760/cma.j.cn511374-20220511-00321

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical and genetic analysis of a child with West syndrome due to a de novo variant of NEXMIF gene].PMID 38818558Read ↗

[Clinical and genetic analysis of a child with X-linked intellectual developmental disorder due to a novel variant of NEXMIF gene].Semantic proximity Read ↗

NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.Semantic proximity Read ↗

[Genetic analysis of a child with Malan syndrome].Semantic proximity Read ↗

NEXMIF variants are associated with epilepsy with or without intellectual disability.Semantic proximity Read ↗

Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.Semantic proximity Read ↗

[CNKSR2 gene variants causing Houge type of X-linked syndromic intellectual developmental disorder: Seven cases and literature review].Semantic proximity Read ↗

[Clinical and genetic analysis of a Chinese pedigree affected with MRXS34 syndrome due to variant of NONO gene].Semantic proximity Read ↗

[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].Semantic proximity Read ↗

[Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant].Semantic proximity Read ↗

A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype-phenotype correlation and literature review.Semantic proximity Read ↗

Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.Semantic proximity Read ↗

A 350 kb <em>NEXMIF </em>Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons SyndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.