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

CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and Phenotype.

Genes - 31 Oct 2024

Ruiz Ivan, Wiltrout Kimberly, Stredny Coral, Mahida Sonal

Abstract excerpt

BACKGROUND: Genetic testing for neurodevelopmental disorders is now considered the standard of care for unexplained epilepsy as well as autism spectrum disorders, intellectual disability, and developmental delays with as many as 50% of individuals identified as having an underlying genetic etiology. Capicua (CIC) is a transcriptional repressor and is widely expressed among human brain tissue. Patients in the...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genotype

Share to Neurodevelopmental Disorders

Share to Pedigree

Share to Repressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 39596625
DOI: 10.3390/genes15111425
PMCID: PMC11594087

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

CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and Phenotype.PMID 39596625Read ↗

Novel CIC variants identified in individuals with neurodevelopmental phenotypes.Semantic proximity Read ↗

The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase Deficiency.Semantic proximity Read ↗

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsySemantic proximity Read ↗

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

Sex-specific genotype-phenotype landscape and prevalence of <i>CASK</i> -related disorderSemantic proximity Read ↗

CIC missense variants contribute to susceptibility for spina bifidaSemantic proximity Read ↗

Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.Semantic proximity Read ↗

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.Semantic proximity Read ↗

First reported case of an inherited PACS2 pathogenic variant with variable expressionSemantic proximity Read ↗

A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.Semantic proximity Read ↗

Recent advances in CYFIP2-associated neurodevelopmental disorders: From human genetics to molecular mechanisms and mouse modelsSemantic proximity Read ↗

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.Semantic proximity Read ↗

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