Dual developmental effects of ARX poly-alanine mutations on human cortical excitatory and inhibitory neurons.

Abstract excerpt

Infantile spasms (IS), a severe childhood epilepsy with an incidence of 1.6-4.5 per 10,000 live births, often lead to lifelong intellectual disability. Up to 5% of affected males carry mutations in the Aristaless-related homeobox (ARX) gene. The lack of human-specific models for developmental epilepsy limits progress, making organoids a promising alternative. We use human cortical organoids (COs) and ganglionic...

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