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 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 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 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 Biomarker disease BEFREE Deficiency of the LIS1 protein causes lissencephaly, a brain developmental disorder. 31562232 2019
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE LIS1 is implicated in lissencephaly, but altered dosage of LIS1 has been also associated with microcephaly syndromes. 31004438 2019
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE The established role of APC2 in integrating the actin and microtubule cytoskeletons to mediate cellular morphological changes suggests shared function with other lissencephaly-encoded cytoskeletal proteins such as α-N-catenin (CTNNA2) and platelet-activating factor acetylhydrolase 1b regulatory subunit 1 (PAFAH1B1, also known as LIS1). 31585108 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 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 Biomarker disease BEFREE We focused on the poorly studied WDR47 protein sharing structural homology with LIS1, which causes lissencephaly. 29078390 2017
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 Heterozygous LIS1 mutations are responsible for the human neuronal migration disorder lissencephaly. 24030547 2014
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 Biomarker disease BEFREE Lissencephaly and subcortical band heterotopia are major malformations of cortical development due to abnormal neuronal migration and several genes have been identified including ARX, DCX, LIS1, RELN, TUBA1A, and VLDLR. 23583063 2013
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly. 23633430 2013
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 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 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 The absence of lissencephaly and major brain malformations often associated with 17p terminal deletions could be attributed to the retention of PAFAH1B1, YWHAE and CRK genes. 21876345 2011
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Whereas isolated PAFAH1B1 deletion causes lissencephaly, YWHAE is a candidate for the dysmorphic phenotype associated with MDS. 20599530 2011
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 GeneticVariation disease BEFREE LIS1 was the first gene cloned in an organism, which was deleted or mutated in patients with lissencephaly in a heterozygous fashion. 20541031 2010
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation. 20227246 2010
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes. 20461390 2010
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 Biomarker disease BEFREE LIS1 was the first gene cloned that was important for neuronal migration in any organism, and heterozygous mutations or deletions of LIS1 are found in the majority of patients with lissencephaly, while DCX mutations were found in males with X-linked lissencephaly. 20688183 2010
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.700 GeneticVariation disease BEFREE Whereas severe presentations of "lissencephaly" are associated with mutations and deletions of DISC1, LIS1 and the gene for the very low-density lipoprotein receptor, genetic variations of these loci are good candidate schizophrenia genes. 20207112 2010