ArticleNeurogenetics2013
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Article in Neurogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Neuropathology of genetically defined malformations of cortical development-A systematic literature review.Neuropathology and applied neurobiology · 2021Pooled it
- Mechanism and regulation of kinesin motors.Nature reviews. Molecular cell biology · 2025Review
- Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.The Journal of cell biology · 2024Review
- Article
- Kinesin-binding protein remodels the kinesin motor to prevent microtubule binding.Science advances · 2021Article
- Goldberg-Shprintzen Syndrome Associated with a Novel Variant in theMolecular syndromology · 2021Article
- Cryo-EM of kinesin-binding protein: challenges and opportunities from protein-surface interactions.Acta crystallographica. Section D, Structural biology · 2021Article
- 'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.Journal of medical genetics · 2020Review
- Article
- Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.Human mutation · 2020Article
- Deconstructing cortical folding: genetic, cellular and mechanical determinants.Nature reviews. Neuroscience · 2019Review
- Multiple Functions of KBP in Neural Development Underlie Brain Anomalies in Goldberg-Shprintzen Syndrome.Frontiers in molecular neuroscience · 2019Article
- Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.Iranian journal of child neurology · 2017Article
- Cerebral cortex expansion and folding: what have we learned?The EMBO journal · 2016Review
- Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.Human molecular genetics · 2015Article
- Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.Neurology · 2014Article
- The Genetic Landscape of Polymicrogyria.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Polymicrogyria (PMG) is a clinically heterogeneous malformation of cortical development, characterized by a loss of the normal gyral pattern that is replaced by many small and infolded gyri separated by shallow sulci that are partly fused in their depths. Causes of PMG are heterogeneous and include acquired and genetic causes. There are more than 100 syndromes possibly associated with PMG but mutations in specific genes such as SRPX2, GPR56, TUBB2B, TUBB3, NHEJ1, TUBA1A, TUBA8, and WDR62 have been reported only in a minority of patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.