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

Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.

Journal of autism and developmental disorders - 1 Nov 2015

Lumish Heidi S, Wynn Julia, Devinsky Orrin, Chung Wendy K

Abstract excerpt

Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures,...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Autism Spectrum Disorder
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to SET gene

Share to SETD2 gene

Share to Histone-Lysine N-Methyltransferase

Share to Intellectual Disability

Share to Mutation

Source

Identifiers

PMID: 26084711
DOI: 10.1007/s10803-015-2484-8

Genes

SETD2
SET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.PMID 26084711Read ↗

Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.Semantic proximity Read ↗

Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.Semantic proximity Read ↗

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.Semantic proximity Read ↗

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.Semantic proximity Read ↗

SET de novo frameshift variants associated with developmental delay and intellectual disabilities.Semantic proximity Read ↗

Phenotypes of autism spectrum disorder and schizoaffective disorder associated with SETD1B gene but without intellectual disability and seizures.Semantic proximity Read ↗

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.Semantic proximity Read ↗

A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant.Semantic proximity Read ↗

Clinical use of whole exome sequencing in children with developmental delay/intellectual disabilitySemantic proximity Read ↗

SETD1B-associated neurodevelopmental disorder.Semantic proximity Read ↗

Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.Semantic proximity Read ↗

Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy.Semantic proximity Read ↗

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