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

IQSEC2 and X-linked syndromal intellectual disability.

Psychiatric genetics - 1 Jun 2016

Alexander-Bloch Aaron F, McDougle Christopher J, Ullman Zhanna, Sweetser David A

Abstract excerpt

Despite the recent acceleration in the discovery of genetic risk factors for intellectual disability (ID), the genetic etiology of ID is unknown in approximately half of cases and remains a major frontier of genetics in medicine and psychiatry. The distinction between syndromal and nonsyndromal forms of ID is of great clinical importance, but the boundary between these clinical entities is difficult to ascertain...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Genetic Diseases, X-Linked
Share to Guanine Nucleotide Exchange Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 27010919
DOI: 10.1097/YPG.0000000000000128
PMCID: PMC9317176

Genes

IQSEC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

IQSEC2 and X-linked syndromal intellectual disability.PMID 27010919Read ↗

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.Semantic proximity Read ↗

Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.Semantic proximity Read ↗

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.Semantic proximity Read ↗

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.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 ↗

Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.Semantic proximity Read ↗

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

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.Semantic proximity Read ↗

Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.Semantic proximity Read ↗

Population-specific variant spectrum and epilepsy outcomes in IQSEC2-related neurodevelopmental disorder: a Chinese pediatric cohortSemantic proximity Read ↗

[Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].Semantic proximity Read ↗

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 FamilySemantic proximity Read ↗

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