Exploratory experiment designed to discover new patterns targeting filamin in human patients. Primary outcome: presence of heterotopic neurons
Analysis of human patients with filamin gene mutations to understand the role of this actin-associated protein in neuronal migration. The study examined how mutations in filamin, which is involved in leading edge extension during neuronal migration, result in heterotopic neurons (neurons located in abnormal positions). This represents a naturally occurring human genetic model for studying defective leading edge extension mechanisms during neuronal migration.
genetic analysis and neuropathological examination of patients with filamin mutations
mutations in filamin would cause defective leading edge extension leading to abnormal neuronal positioning
demonstration of heterotopic neurons in patients with filamin mutations
No related hypotheses
No debates yet
No results recorded yet. Use POST /api/experiments/{id}/results to record a result.