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

Clinical, imaging and genetic profile of KMT2B-related dystonia: a review of published cases.

Journal of neural transmission (Vienna, Austria : 1996) - 1 Jul 2026

Mahale Rohan R, Khanda Pramod, Roy Subhajit, Mailankody Pooja

Abstract excerpt

KMT2B gene variants are associated with early-onset generalised dystonia. The geographical influence on genotype-phenotype correlations remain incompletely characterized. To compare the clinical, imaging, and genetic profiles of Asian and European/American cohorts with KMT2B-related dystonia and study the genotype-phenotype correlations. We report a patient with KMT2B-related dystonia from our centre and present...

Read the complete abstract on PubMed

Topics

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

Share to Dystonia
Share to Dystonic Disorders
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histone-Lysine N-Methyltransferase

Share to Phenotype

Source

Identifiers

PMID: 41925783
DOI: 10.1007/s00702-026-03153-9

Genes

KMT2B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical, imaging and genetic profile of KMT2B-related dystonia: a review of published cases.PMID 41925783Read ↗

Update on KMT2B-Related Dystonia.Semantic proximity Read ↗

Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants.Semantic proximity Read ↗

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Semantic proximity Read ↗

Reviewing the Clinical Spectrum Related to Kmt2b Gene Mutations: Unusual Clinical Presentation and a Possible New Pathogenic MutationSemantic proximity Read ↗

A Novel Mutation in KMT2B Gene Causing Childhood-onset Generalized Dystonia with Expanded Phenotype from India.Semantic proximity Read ↗

Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.Semantic proximity Read ↗

Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: Case reportSemantic proximity Read ↗

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort studySemantic proximity Read ↗

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.Semantic proximity Read ↗

[Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients].Semantic proximity Read ↗

Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.Semantic proximity Read ↗

A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members.Semantic proximity Read ↗

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