Discover Community Create You

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

Article

Infantile spasms caused by NEXMIF mutation: A case report and literature review.

Applied neuropsychology. Child - 1 Jan 2000

Zhong Liuming, Liu Caihui, Lin Liang

Abstract excerpt

BACKGROUND: Infantile spasms are rare epileptic syndromes associated with neurodevelopment and genes. The NEXMIF gene, identified as KIDLIA, KIAA2022 or Xpn, is a gene of unknown biological identity located on the q13.2 X chromosome. CASE DESCRIPTION: We presented a 4-month-old infant with a diagnosis of infantile spasms with NEXMIF mutation. Clinical manifestations include psychomotor retardation, loss of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anticonvulsants
Share to Infant
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Seizures

Share to Spasms, Infantile

Source

Identifiers

PMID: 37313861
DOI: 10.1080/21622965.2023.2220459

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Infantile spasms caused by NEXMIF mutation: A case report and literature review.PMID 37313861Read ↗

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

NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report.Semantic proximity Read ↗

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

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

[Dynamin-1-related infantile spasms: a case report and review of literature].Semantic proximity Read ↗

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

Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.Semantic proximity Read ↗

Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review.Semantic proximity Read ↗

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

Two Novel Pediatric Cases of EIF4A2 -Related Disorder With Refractory Infantile Spasms.Semantic proximity Read ↗

MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.Semantic proximity Read ↗

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