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lissencefálie klasické a heterotopie subkortikálne pruhovité

Subject h.	lissencefálie klasické a heterotopie subkortikálne pruhovité
Subject h.	Classical Lissencephalies and Subcortical Band Heterotopias
Entry terms	lissencefálie klasické a heterotopie subkortikálne pruhovité heterotopia podkôrová pruhovitá lissencefálie klasické lissencefália, typ 1 lissencefália typu 1 lissencefália viazaná na X-chromozóm lissencefália – subkortikálna pruhovitá heterotopia Miller-Diekerov syndróm Millerov-Diekerov syndróm
English X references	Heterotopia, Subcortical Band Lissencephalies, Classical Lissencephaly, Type 1 Lissencephaly, X-Linked Lissencephaly-Subcortical Band Heterotopia Miller-Dieker Syndrome Subcortical Band Heterotopia
Scope note in English	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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