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

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Clinical genetics - 1 Oct 2026

Tamaoui Leila, Bouhouche Ahmed, Birouk Nazha

Abstract excerpt

A 29-year-old woman with a novel homozygous VPS13A frameshift variant presented with drug-resistant temporal-lobe epilepsy and severe sensory neuronopathy, but no acanthocytes on repeated blood smears-expanding the phenotypic spectrum of chorea-acanthocytosis beyond its defining haematological feature.

Read the complete abstract on PubMed

Topics

Humans
Female
Vesicular Transport Proteins
Adult
Neuroacanthocytosis
Epilepsy
Phenotype
Frameshift Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 42543166
DOI: 10.1111/cge.70223
PMCID: PMC13533859

Genes

VPS13A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.PMID 42543166Read ↗

Progressive ataxia and orolingual chorea revealing a novel VPS13A variant: a case report of chorea-acanthocytosis without peripheral acanthocytosis with a literature review.Semantic proximity Read ↗

A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte.Semantic proximity Read ↗

Chorea-acanthocytosis.Semantic proximity Read ↗

Clinical case report: Chorea-acanthocytosis of the c.9109 C>T variant in the VPS13A geneSemantic proximity Read ↗

Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations.Semantic proximity Read ↗

Chorea-echinocytosis caused by two novel compound heterozygous mutations in the VPS13A gene: a case report and literature reviewSemantic proximity Read ↗

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.Semantic proximity Read ↗

Two Case Reports of Chorea-acanthocytosis and Review of LiteratureSemantic proximity Read ↗

Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene.Semantic proximity Read ↗

Novel VPS13A Gene Mutations in a South Asian, Indian Patient with Chorea‑acanthocytosis.Semantic proximity Read ↗

Chorea-acanthocytosis without chorea: Expanding the clinical phenotype.Semantic proximity Read ↗

Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).Semantic proximity Read ↗

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