 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.)
| Descriptor ID |
D054221
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| 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
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| 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
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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 this website by year, and whether "Classical Lissencephalies and Subcortical Band Heterotopias" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
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| 2008 | 1 | 0 | 1 | | 2009 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2014 | 0 | 1 | 1 | | 2017 | 0 | 1 | 1 | | 2018 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Classical Lissencephalies and Subcortical Band Heterotopias" by people in Profiles.
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Koenig M, Dobyns WB, Di Donato N. Lissencephaly: Update on diagnostics and clinical management. Eur J Paediatr Neurol. 2021 Nov; 35:147-152.
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Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron. 2020 04 22; 106(2):237-245.e8.
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Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet. 2019 10 03; 105(4):844-853.
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Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 11; 20(11):1354-1364.
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Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB. Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A. 2017 Jun; 173(6):1473-1488.
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Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43.
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Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia. 2010 Feb; 51 Suppl 1:5-9.
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Mineyko A, Doja A, Hurteau J, Dobyns WB, Das S, Boycott KM. A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism. J Child Neurol. 2010 Jun; 25(6):738-41.
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Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur J Hum Genet. 2009 Jul; 17(7):911-8.
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