ArticleJournal of medical genetics1997
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 58 citations in OpenAlex.
- When the Cytoskeleton Fails: Primary Structural Defects Underlying Disorders with Neurological Involvement.International journal of molecular sciences · 2026Review
- Malformations of cortical development: genetic mechanisms and diagnostic approach.Korean journal of pediatrics · 2017Review
- Malformations of cortical development: clinical features and genetic causes.The Lancet. Neurology · 2014Review
- Interleukin-1 beta guides the migration of cortical neurons.Journal of neuroinflammation · 2014Article
- Genetics, molecular biology, and phenotypes of x-linked epilepsy.Molecular neurobiology · 2014Review
- Cortical dysplasia: a possible substrate for brain tumors.Future oncology (London, England) · 2012Article
- Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.Acta neuropathologica · 2011Review
- Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.Human molecular genetics · 2010Article
- Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.Human genetics · 2009Review
- Heterotopic neurogenesis in a rat with cortical heterotopia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1998Article
- Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.Journal of medical genetics · 1998Article
- The unfolding story of two lissencephaly genes and brain development.Molecular neurobiologyReview
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Authors and funding
17 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/ LIS) is an intriguing disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males, and subcortical laminar heterotopia (SCLH) associated with milder mental retardation and epilepsy in heterozygous females. Here we report an exclusion mapping study carried out in three unrelated previously described families in which males are affected with lissencephaly and females with SCLH, using 38 microsatellite markers evenly distributed on the X chromosome. Most of the X chromosome was excluded and potential intervals of assignment in Xq22.3-q23 or in Xq27 are reported. Although the number of informative meioses did not allow a decision between these two loci, it is worth noting that the former interval is compatible with the mapping of a breakpoint involved in a de novo X;autosomal balanced translocation 46,XX,t(X;2)(q22;p25) previously described in a female with classical lissencephaly. In addition, haplotype inheritance in two families showed a grandpaternal origin of the mutation and suggested in one family the presence of mosaicism in germline cells of normal transmitting males.
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