Structured Summary
Abstract
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.)
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Synonyms
66 entry terms
- Agyria-Pachygyria-Band Spectrum
- Lissencephaly-Subcortical Band Heterotopia
- Agyria Pachygyria Band Spectrum
- Band Heterotopia, Lissencephaly-Subcortical
- Heterotopia, Lissencephaly-Subcortical Band
- Heterotopias, Lissencephaly-Subcortical Band
- Lissencephaly Subcortical Band Heterotopia
- Lissencephaly-Subcortical Band Heterotopias
- Chromosome 17p13.3 Deletion Syndrome
- Classic Lissencephaly
- Classical Lissencephaly Syndrome
- Double Cortex Syndrome
- Heterotopia, Subcortical Band
- Isolated Lissencephaly Sequence
- Lissencephalies, Classical
- Lissencephaly 1
- Lissencephaly Sequence, Isolated
- Lissencephaly Syndrome, Miller-Dieker
- Lissencephaly Type 1
- Lissencephaly, Classic
- Lissencephaly, Miller-Dieker
- Lissencephaly, Type 1
- Lissencephaly, X-Linked
- Lissencephaly, X-Linked, 1
- Miller-Dieker Lissencephaly Syndrome
- Miller-Dieker Syndrome
- Subcortical Band Heterotopia
- Subcortical Laminar Heterotopia
- Type 1 Lissencephaly
- X-Linked Lissencephaly
- 1, Lissencephaly
- 1, Lissencephaly Type
- 1s, Lissencephaly
- 1s, Lissencephaly Type
- Classic Lissencephalies
- Classical Lissencephalies
- Classical Lissencephaly
- Classical Lissencephaly Syndromes
- Heterotopia, Subcortical Laminar
- Heterotopias, Subcortical Band
- Heterotopias, Subcortical Laminar
- Lissencephalies, Classic
- Lissencephalies, Type 1
- Lissencephalies, X-Linked
- Lissencephaly 1s
- Lissencephaly Syndrome, Classical
- Lissencephaly Syndrome, Miller Dieker
- Lissencephaly Syndromes, Classical
- Lissencephaly Type 1s
- Lissencephaly, Classical
- Lissencephaly, Miller Dieker
- Lissencephaly, X Linked
- Miller Dieker Lissencephaly Syndrome
- Miller Dieker Syndrome
- Miller-Dieker Lissencephaly
- Subcortical Band Heterotopias
- Syndrome, Classical Lissencephaly
- Syndrome, Double Cortex
- Syndrome, Miller-Dieker
- Syndrome, Miller-Dieker Lissencephaly
- Syndromes, Classical Lissencephaly
- Type 1 Lissencephalies
- Type 1, Lissencephaly
- Type 1s, Lissencephaly
- X Linked Lissencephaly
- X-Linked Lissencephalies
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34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
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History Note
2008
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Previous Indexing
- Cerebral Cortex/abnormalities (1993-2007)
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References
- National Library of Medicine. Classical Lissencephalies and Subcortical Band Heterotopias. Medical Subject Headings (MeSH). 2026. Unique ID D054221. http://id.nlm.nih.gov/mesh/2026/D054221
- Classical Lissencephalies and Subcortical Band Heterotopias. In: Wikidata. https://www.wikidata.org/wiki/Q67215740