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, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.

Brain & development - 1 Aug 2002

Strømme Petter, Mangelsdorf Marie E, Scheffer Ingrid E, Gécz Jozef

Abstract excerpt

Clinical data from 50 mentally retarded (MR) males in nine X-linked MR families, syndromic and non-specific, with mutations (duplication, expansion, missense, and deletion mutations) in the Aristaless related homeobox gene, ARX, were analysed. Seizures were observed with all mutations and occurred in 29 patients, including one family with a novel myoclonic epilepsy syndrome associated with the missense mutation....

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Autistic Disorder
Share to Dystonia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsies, Myoclonic

Share to Genes, Homeobox

Share to Seizures

Share to Spasms, Infantile

Share to X Chromosome

Source

Identifiers

PMID: 12142061
DOI: 10.1016/s0387-7604(02)00079-7

Genes

ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.PMID 12142061Read ↗

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.Semantic proximity Read ↗

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.Semantic proximity Read ↗

Expansion of the ARX spectrum.Semantic proximity Read ↗

X-linked myoclonic epilepsy with spasticity and intellectual disabilitySemantic proximity Read ↗

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.Semantic proximity Read ↗

X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations.Semantic proximity Read ↗

The aristaless (Arx) gene: one gene for many "interneuronopathies".Semantic proximity Read ↗

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.Semantic proximity Read ↗

ARX spectrum disorders: making inroads into the molecular pathology.Semantic proximity Read ↗

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Semantic proximity Read ↗

Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.Semantic proximity Read ↗

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.Semantic proximity Read ↗

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