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

X-Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant.

American journal of medical genetics. Part A - 1 Jan 2025

Laflamme Naomi, Triassi Valérie, Martineau Laurence, Toffa Dènahin Hinnoutondji, Létourneau-Guillon Laurent, Laplante Annie, Cossette Patrick, Samarut Éric, Tétreault Martine, Nguyen Dang Khoa

Abstract excerpt

We studied three brothers and a maternal half-brother featuring global developmental delay, mild to moderate intellectual disability, epilepsy, microcephaly, and strabismus. All had bilateral perisylvian and perirolandic polymicrogyria, while some also had malformations of the hippocampus (malrotation and dysplasia), cerebellum (heterotopias and asymmetric aplasia), corpus callosum dysgenesis, and brainstem...

Read the complete abstract on PubMed

Topics

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

Share to Developmental Disabilities
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Intellectual Disability

Share to Kinesins

Share to Malformations of Cortical Development

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 39268972
DOI: 10.1002/ajmg.a.63860

Genes

KIF4A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant.PMID 39268972Read ↗

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.Semantic proximity Read ↗

Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.Semantic proximity Read ↗

Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.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 ↗

Expanding the KIF4A-associated phenotype.Semantic proximity Read ↗

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.Semantic proximity Read ↗

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.Semantic proximity Read ↗

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.Semantic proximity Read ↗

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.Semantic proximity Read ↗

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophySemantic proximity Read ↗

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation.Semantic proximity Read ↗

Expansion of Phenotyping and Genotypic Spectra of KIF7 -Related Intellectual Disability: Case Report and Review of Literature.Semantic proximity Read ↗

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