Exploratory experiment designed to discover new patterns targeting doublecortin (DCX) in human patients. Primary outcome: presence of type 1 lissencephaly
Analysis of human patients with mutations in the doublecortin (DCX) gene resulting in type 1 lissencephaly. The study investigated how DCX protein, which interacts with microtubules and is essential for nucleokinesis during neuronal migration, when mutated causes severe cortical malformation. This research contributed to understanding the molecular mechanisms underlying microtubule-dependent neuronal migration and the pathogenesis of lissencephaly.
genetic analysis and neuropathological examination of patients with DCX mutations
mutations in DCX would cause defective nucleokinesis leading to type 1 lissencephaly
demonstration of type 1 lissencephaly phenotype in patients with DCX mutations
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