ArticleAmerican journal of human genetics2002
A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 121 citations in OpenAlex.
- Cortical and Commissural Defects Upon HCF-1 Loss in Nkx2.1-Derived Embryonic Neurons and Glia.Developmental neurobiology · 2019Article
- Genetic Basis of Brain Malformations.Molecular syndromology · 2016Review
- Polymicrogyria: pathology, fetal origins and mechanisms.Acta neuropathologica communications · 2014Review
- Malformations of cortical development: clinical features and genetic causes.The Lancet. Neurology · 2014Review
- The epilepsy phenome/genome project.Clinical trials (London, England) · 2013Article
- A developmental and genetic classification for malformations of cortical development: update 2012.Brain : a journal of neurology · 2012Review
- Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.American journal of medical genetics. Part A · 2011Article
- Abnormal development of the human cerebral cortex.Journal of anatomy · 2010Review
- Cortical malformations: unfolding polymicrogyria.Nature reviews. Neurology · 2010Article
- The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.Brain & development · 2010Article
- Current concepts of polymicrogyria.Neuroradiology · 2010Review
- Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.American journal of medical genetics. Part A · 2010Article
- Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.Brain : a journal of neurology · 2010Article
- MRI analysis of sulcation morphology in polymicrogyria.Epilepsia · 2010Article
- Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.Epilepsia · 2009Article
- A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.Neurogenetics · 2009Article
- Neuroimaging aspects of Aicardi syndrome.American journal of medical genetics. Part A · 2008Article
- Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.American journal of medical genetics. Part A · 2007Article
- Genetic malformations of cortical development.Experimental brain research · 2006Review
- Assessment of cortical maturation with prenatal MRI: part II: abnormalities of cortical maturation.European radiology · 2005Review
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Authors and funding
11 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and intellectual disability. PMG is characterized by an excess of small gyri and abnormal cortical lamination. The most common distribution is bilateral, symmetrical, and maximal, in the region surrounding the sylvian fissures, and is known as "bilateral perisylvian polymicrogyria" (BPP). Most cases are sporadic, although several families have been observed with multiple affected members, usually following an X-linked inheritance pattern. Here we report the first genetic locus for BPP mapped by linkage analysis in five families. Linkage places the critical region for BPP at Xq28 (LOD score 3.08 in Xq28, distal to DXS8103 by multipoint analysis). We suggest that this region contains a gene that is necessary for correct neuronal organization and that the identification of this gene will both enhance our understanding of normal cortical development and accelerate the identification of other genes responsible for PMG.
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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.