Article
Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.
Trends in genetics : TIG - 1 Dec 2007
Kerjan Geraldine, Gleeson Joseph G
Abstract excerpt
Classical lissencephaly is a human developmental brain disorder characterized by a paucity of cortical gyration and thickening of the cortical gray matter, leading to severe epilepsy and mental retardation. Loss-of-function mutations in the microtubule-associated protein encoding genes, PAFAH1B1 (encoding the protein LIS1), DCX and TUBA1A have been implicated in the pathogenesis of the condition. Animal models...
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