Condition: Classical Lissencephaly
rs113994198 in
PAFAH1B1 gene and
Classical Lissencephaly
PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
PMID 9063735 1997 Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
PMID 15007136 2004 Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.
PMID 11163258 2000 LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome.
PMID 15173193 2004 Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.
PMID 12885786 2003 LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties.
PMID 11115846 2000 The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 19667223 2009 LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.