Disease: Subcortical Band Heterotopia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 Biomarker disease BEFREE Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS-LIS1 (PAFAH1B1) and DCX. 28440899 2017
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 GeneticVariation disease BEFREE Somatic mutation of the lissencephaly-1 gene is a cause of subcortical band heterotopia ("double cortex"). 29258966 2017
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 GeneticVariation disease BEFREE Mutations were somatic in 8 of the 27 (30%), predominantly in persons with the double-cortex syndrome (in whom we found mutations in DCX and LIS1), persons with periventricular nodular heterotopia (FLNA), and persons with pachygyria (TUBB2B). 25140959 2014
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		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: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 GeneticVariation disease BEFREE This patient is one of only a few reported with a missense mutation in LIS1 associated with subcortical band heterotopia, and this is the first report of a mosaic individual having an affected child. 19808989 2010
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 GeneticVariation disease BEFREE Incorporation of deletion/duplication analysis of the LIS1 and DCX genes will be important for the molecular diagnosis of patients with ILS and SBH. 19050731 2009
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 Biomarker 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: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 GermlineCausalMutation disease ORPHANET High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 18285425 2008
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 Biomarker disease BEFREE Furthermore, patients presenting with mild cerebral malformations such as subcortical band heterotopia or cerebellar hypoplasia should be considered for genetic analysis of the LIS1 gene. 17664403 2007
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 GeneticVariation disease BEFREE Lissencephaly-pachygyria and subcortical band heterotopia (SBH) are disorders of neuronal migration and represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. 16724181 2006
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 GeneticVariation disease BEFREE Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior subcortical band heterotopia owing to mosaic mutations of LIS1. 15921228 2005
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 GeneticVariation disease BEFREE The two patients with posterior SBH harbored a missense (Arg241Pro) and a nonsense (R8X) mosaic mutation of LIS1. 14581661 2003
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 GeneticVariation disease BEFREE Approximately 60% of patients with classical LIS, and one patient with atypical SBH have been found to have deletions or mutations of the LIS1 gene, located on 17p13.3. 11754098 2002
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 GeneticVariation disease BEFREE Missense mutations of both LIS1 and XLIS genes have been observed in some of the rare male patients with SBH. 12185771 2002
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 GeneticVariation disease BEFREE Missense mutations of both LIS1 and XLIS genes have been observed in some of the rare male patients with SBH. 11749114 2001
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 Biomarker disease BEFREE Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin. 10987567 2000
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 Biomarker disease HPO
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.700 CausalMutation disease CLINVAR