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