Disease: Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration. 22190508 2012
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Nudel has previously been shown to bind Lis1, a gene underlying lissencephaly in humans. 14962739 2004
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Brain malformations caused by 17p13.3 deletions include lissencephaly with deletions of the larger Miller-Dieker syndrome region or smaller deletions of only PAFAH1B1, white matter changes, and a distinct syndrome due to deletions including YWHAE and CRK but sparing PAFAH1B1. 30568308 2019
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Both mutations lead to a classic form of lissencephaly, with a posterior to anterior gradient, almost indistinguishable from LIS1-related lissencephaly. 27747449 2017
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. 7907669 1993
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Our data highlight the presence of consistent and specific abnormalities that should allow the differentiation of TUBA1A related lissencephalies from those related to LIS1, DCX and ARX genes. 18728072 2008
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE LIS1 (PAFAH1B1) mutation can impair neuronal migration, causing lissencephaly in humans. 23483716 2013
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Mutations in the LIS1 gene result in isolated lissencephaly or subcortical band heterotopia. 19808989 2010
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Identifying these mechanisms has shed light on typical human neuronal migration disorders such as periventricular heterotopias (disorder of migration initiation linked to filamin), type I lissencephaly (cytoskeletal abnormality linked to Lis1, a microtubule-associated protein), double cortex syndrome (cytoskeletal abnormality linked to doublecortin, a microtubule-associated protein), or lissencephaly plus cerebellar hypoplasia (reelin defect). 16538086 2006
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Overall, our findings provide insights on molecular mechanisms involved in the neurodevelopmental disorders lissencephaly and Rett syndrome caused by dysfunction of LIS1 and MeCP2, respectively. 31474834 2019
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Our findings provide evidence of a dramatic shift in excitability in the dentate gyrus of Pafah1b1<sup>+/-</sup> mice that may contribute to epilepsy or cognitive impairments associated with lissencephaly. 28811646 2017
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE In 52 patients with ILS, we identified 12 deletions and 6 duplications involving the LIS1 gene (35%), with the majority resulting in grade 3 lissencephaly. 19050731 2009
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE The Lis1+/- mouse is a model for lissencephaly; mice exhibit neuronal migration defects but are viable and fertile. 18075263 2008
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE LIS1 was first gene cloned in an organism important for neuronal migration, as it was deleted or mutated in patients with lissencephaly in a heterozygous fashion. 17850624 2007
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Full chromosome studies in the parents and the proband and mutation analysis on peripheral blood lymphocytes (and on skin cultured fibroblasts from affected and unaffected skin areas in the child) in the genes for subcortical band heterotopia (DCX (Xq22.3-q23)], lissencephaly (PAFAH1B1, alias LIS1, at 17p13.3), and oculocerebrorenal syndrome of Lowe (OCRL at Xq23-q24)] were unrevealing. 19380077 2009
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 18285425 2008
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Our results suggest that the lissencephaly severity in ILS caused by LIS1 mutations may be predicted by the type and location of the mutation. 11115846 2000
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Most cases of lissencephaly-pachygyria are caused by mutations of LIS1 and XLIS genes. 15816977 2005
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE An ovel mutation (c.83_84delAT, p.Tyr28Phefs*31) was identified in LIS1 in 1 of the boys with lissencephaly and another novel mutation (c.200delG, p.Ile68Leufs*87) was found in DCX in the girl with subcortical band heterotopia. 22408144 2012
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Our findings suggest that patients with LIS1-associated lissencephaly might benefit most from lamotrigine, valproate, vigabatrin or phenobarbital. 26494205 2016
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. 23035971 2012
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE We identified a novel missense mutation, c.412G > A, p.(E138K),in the PAFAH1B1 gene of a Chinese family with lissencephaly. 30100227 2019
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Miller-Dieker syndrome represents a microdeletion syndrome spanning the LIS1 locus at 17p13.3, the deletion of which leads to lissencephaly. 17437911 2007
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. 6476009 1984
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. 9063735 1997