Classical Lissencephalies and Subcortical Band Heterotopias

Klassiska lissencefalier och subkortikala bandheterotopier

Engelsk definition

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.)

Svenska synonymer

Lissencefalli typ 1 Miller-Diekers syndrom X-bunden lissencefali Klassisk lissencefali

Engelska synonymer

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 X-Linked Lissencephaly Lissencephalies, X-Linked X Linked Lissencephaly X-Linked Lissencephalies Lissencephaly, X-Linked Lissencephaly, X Linked Lissencephaly Syndrome, Miller-Dieker Lissencephaly Syndrome, Miller Dieker Syndrome, Miller-Dieker Lissencephaly Miller-Dieker Lissencephaly Syndrome Miller Dieker Lissencephaly Syndrome Lissencephaly, Miller-Dieker Lissencephaly, Miller Dieker Miller-Dieker Lissencephaly Miller-Dieker Syndrome Miller Dieker Syndrome Syndrome, Miller-Dieker Chromosome 17p13.3 Deletion Syndrome Subcortical Band Heterotopia Double Cortex Syndrome Syndrome, Double Cortex Heterotopia, Subcortical Band Heterotopias, Subcortical Band Subcortical Band Heterotopias Subcortical Laminar Heterotopia Heterotopia, Subcortical Laminar Heterotopias, Subcortical Laminar Lissencephaly, X-Linked, 1 Lissencephalies, Classical Classical Lissencephalies Classical Lissencephaly Lissencephaly, Classical Lissencephaly 1 1, Lissencephaly 1s, Lissencephaly Lissencephaly 1s Lissencephaly Sequence, Isolated Lissencephaly Type 1 1, Lissencephaly Type 1s, Lissencephaly Type Lissencephaly Type 1s Type 1, Lissencephaly Type 1s, Lissencephaly Lissencephaly, Type 1 Lissencephalies, Type 1 Type 1 Lissencephalies Type 1 Lissencephaly Classical Lissencephaly Syndrome Classical Lissencephaly Syndromes Lissencephaly Syndrome, Classical Lissencephaly Syndromes, Classical Syndrome, Classical Lissencephaly Syndromes, Classical Lissencephaly Classic Lissencephaly Isolated Lissencephaly Sequence Lissencephaly, Classic Classic Lissencephalies Lissencephalies, Classic