Classical Lissencephalies and Subcortical Band Heterotopias [klasické lisencefalie a subkortikální pruhovité heterotopie]
- Terms
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komplex agyrie-pachygyrie-subkortikální pruhovítá heterotopie
lisencefalie 1. typu
lisencefalie klasická
lisencefalie Miller-Diekerova typu
lisencefalie Millerova-Diekerova
lisencefalie typ 1
lisencefalie vázaná na chromozóm X
Miller-Diekerova lissencephalie
Miller-Diekerův syndrom
subkortikální pruhovitá heterotopie
syndrom delece chromozomu 17p13.3
X-vázaná lisencefalie
X-vázaná lisencefalie 1
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Agyria-Pachygyria-Band Spectrum
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-Subcortical Band Heterotopia
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
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.)
- DUI
- D054221 MeSH Browser
- CUI
- M0501375
- Previous indexing
- Cerebral Cortex/abnormalities (1993-2007)
- History note
- 2008
- Public note
- 2008
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