Associated Papers
Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.
Feng WX et al.
Seizure, 2024
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.
Simoes C et al.
Bmc Pediatrics, 2022
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
Bagnall RD et al.
Annals of Neurology, 2016
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
Friocourt G et al.
Acta Neuropathologica, 2011
Missense mutations resulting in type 1 lissencephaly.
Reiner O et al.
Cellular and Molecular Life Sciences : Cmls, 2005
LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties.
Caspi M et al.
The Journal of Biological Chemistry, 2003
Lissencephaly and the molecular basis of neuronal migration.
Kato M et al.
Human Molecular Genetics, 2003
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Cardoso C et al.
Human Mutation, 2002
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Leventer RJ et al.
Neurology, 2001
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Cardoso C et al.
Human Molecular Genetics, 2000
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