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 myoclonic epilepsy with spasticity and intellectual disability

13 Aug 2002

Abstract excerpt

OBJECTIVE: To describe a new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability (XMESID) and identify the gene defect underlying this disorder. METHODS: The authors studied a family in which six boys over two generations had intractable seizures using a validated seizure questionnaire, clinical examination, and EEG studies. Previous records and investigations were...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy research and treatment
Share to Glycogen Storage Diseases and Myoclonus
Share to Neurological disorders and treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 12177367
DOI: 10.1212/wnl.59.3.348

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked myoclonic epilepsy with spasticity and intellectual disabilityPMID 12177367Read ↗

The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.Semantic proximity Read ↗

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.Semantic proximity Read ↗

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

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

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

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.Semantic proximity Read ↗

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

Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.Semantic proximity Read ↗

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

Expansion of the ARX spectrum.Semantic proximity Read ↗

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

The molecular and phenotypic spectrum of IQSEC2-related epilepsy.Semantic proximity Read ↗

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