Classical Lissencephalies and Subcortical Band Heterotopias
"Classical Lissencephalies and Subcortical Band Heterotopias" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)
MeSH Number(s)
C10.500.507.249.230
C10.500.507.750.230
C16.131.666.507.186.230
C16.131.666.507.812.230
C16.320.322.500.186
Concept/Terms
Classical Lissencephalies and Subcortical Band Heterotopias- Classical Lissencephalies and Subcortical Band Heterotopias
- Lissencephaly-Subcortical Band Heterotopia
- Band Heterotopia, Lissencephaly-Subcortical
- Heterotopia, Lissencephaly-Subcortical Band
- Heterotopias, Lissencephaly-Subcortical Band
- Lissencephaly Subcortical Band Heterotopia
- Lissencephaly-Subcortical Band Heterotopias
- Agyria-Pachygyria-Band Spectrum
- Agyria Pachygyria Band Spectrum
Lissencephalies, Classical- Lissencephalies, Classical
- Classical Lissencephalies
- Classical Lissencephaly
- Lissencephaly, Classical
- Type 1 Lissencephaly
- Lissencephaly, Type 1
- Lissencephalies, Type 1
- Type 1 Lissencephalies
X-Linked Lissencephaly- X-Linked Lissencephaly
- Lissencephalies, X-Linked
- X Linked Lissencephaly
- X-Linked Lissencephalies
- Lissencephaly, X-Linked
- Lissencephaly, X Linked
Subcortical Band Heterotopia- Subcortical Band Heterotopia
- Heterotopias, Subcortical Band
- Subcortical Band Heterotopias
- Double Cortex Syndrome
- Syndrome, Double Cortex
- Heterotopia, Subcortical Band
- Subcortical Laminar Heterotopia
- Heterotopia, Subcortical Laminar
- Heterotopias, Subcortical Laminar
Lissencephaly Syndrome, Miller-Dieker- Lissencephaly Syndrome, Miller-Dieker
- Lissencephaly Syndrome, Miller Dieker
- Miller-Dieker Lissencephaly Syndrome
- Syndrome, Miller-Dieker Lissencephaly
- Miller-Dieker Syndrome
- Miller Dieker Syndrome
- Syndrome, Miller-Dieker
- Lissencephaly, Miller-Dieker
- Lissencephaly, Miller Dieker
- Miller-Dieker Lissencephaly
Below are MeSH descriptors whose meaning is more general than "Classical Lissencephalies and Subcortical Band Heterotopias".
Below are MeSH descriptors whose meaning is more specific than "Classical Lissencephalies and Subcortical Band Heterotopias".
This graph shows the total number of publications written about "Classical Lissencephalies and Subcortical Band Heterotopias" by people in Harvard Catalyst Profiles by year, and whether "Classical Lissencephalies and Subcortical Band Heterotopias" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2012 | 0 | 1 | 1 |
| 2013 | 0 | 1 | 1 |
| 2014 | 0 | 3 | 3 |
| 2017 | 2 | 0 | 2 |
| 2022 | 1 | 0 | 1 |
Below are the most recent publications written about "Classical Lissencephalies and Subcortical Band Heterotopias" by people in Profiles.
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Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience. BMC Med Genomics. 2022 12 21; 15(1):268.
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Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex. Sci Rep. 2017 12 11; 7(1):17308.
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[Prenatal diagnosis of a fetus with Miller-Dieker syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10; 34(6):879-883.
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[Mutations in Eml1/EML1 lead to ectopic progenitors and neuronal heterotopia in mouse and human]. Med Sci (Paris). 2014 Dec; 30(12):1087-90.
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Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43.
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Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. Nat Neurosci. 2014 Jul; 17(7):923-33.
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Somatic mutation, genomic variation, and neurological disease. Science. 2013 Jul 05; 341(6141):1237758.
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A radial glia-specific role of RhoA in double cortex formation. Neuron. 2012 Mar 08; 73(5):911-24.
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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. J Hum Genet. 2012 Jan; 57(1):70-2.
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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet. 2010 May; 47(5):299-311.