ReviewBrain sciences2020
Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms.
Review in Brain sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed.
- Article
- Prenatal characteristics and clinical outcomes in 82 cases with agenesis of corpus callosum: single tertiary center experience.BMC pregnancy and childbirth · 2026Article
- Absent Septum Pellucidum in Fetal Development: Diagnostic Challenges, Associated Anomalies, and Prognostic Uncertainty-A Structured Narrative Review.Journal of clinical medicine · 2026Review
- Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.Molecular psychiatry · 2026Article
- Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish.Frontiers in molecular neuroscience · 2026Review
- Potential role of SLC6A3 in neurodevelopmental impairments associated with corpus callosum abnormalities: insights from CNV analysis and clinical phenotyping.Molecular cytogenetics · 2025Article
- Reverse Shapiro Syndrome Presenting as Fever of Unknown Origin: A Case Report and Review of the Literature.Cureus · 2025Article
- Transmantle heterotopia associated with agenesis of the corpus callosum in a patient with Parkinson: A case report.Radiology case reports · 2025Article
- Odor localization in structural interhemispheric deficits.Chemical senses · 2025Article
- A case of central sleep apnea in an adult with agenesis of the corpus callosum.Respiratory medicine case reports · 2025Article
- Callosal Injuries in Cytomegalovirus Fetopathy: A Neurosonographic Study.Fetal diagnosis and therapy · 2025Article
- Abnormal cytoskeletal remodeling but normal neuronal excitability in a mouse model of the recurrent developmental and epileptic encephalopathy-susceptibility KCNB1-p.R312H variant.Communications biology · 2024Article
- Corpus callosal agenesis with gray matter heterotopia and bilateral eye coloboma in an infant: A case report.Radiology case reports · 2024Article
- Article
- MRI Evaluation of Corpus Callosum Malformation and Associated Anomalies: A Retrospective Cross-Sectional Study.Cureus · 2024Article
- Fetal MRI Analysis of Corpus Callosal Abnormalities: Classification, and Associated Anomalies.Diagnostics (Basel, Switzerland) · 2024Article
- Demographic and clinical characteristics, seizure disorders, and antiepileptic drug usage in different types of corpus callosum disorders: a comparative study in children.Italian journal of pediatrics · 2024Article
- A selective defect in the glial wedge as part of the neuroepithelium disruption in hydrocephalus development in the mouse hyh model is associated with complete corpus callosum dysgenesis.Frontiers in cellular neuroscience · 2024Article
- Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum.Journal of clinical medicine · 2023Article
- Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis.International journal of molecular sciences · 2023Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brain hemispheres are connected by commissural structures, which consist of white matter fiber tracts that spread excitatory stimuli to various regions of the cortex. This allows an interaction between the two cerebral halves. The largest commissure is the corpus callosum (CC) which is located inferior to the longitudinal fissure, serving as its lower border. Sometimes this structure is not completely developed, which results in the condition known as agenesis of the corpus callosum (ACC). The aim of this paper was to review the latest discoveries related to the genetic and metabolic background of ACC, including the genotype/phenotype correlations as well as the clinical and imaging symptomatology. Due to various factors, including genetic defects and metabolic diseases, the development of CC may be impaired in many ways, which results in complete or partial ACC. This creates several clinical implications, depending on the specificity of the malformation and other defects in patients. Epilepsy, motor impairment and intellectual disability are the most prevalent. However, an asymptomatic course of the disease is even more common. ACC presents with characteristic images on ultrasound and magnetic resonance imaging (MRI).
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