STRADA deficiency impairs cortical interneuron development in humans and mice

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28 Oct 2026 0 comments

Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy syndrome (PMSE/STRADA-related disease) is a rare neurodevelopmental disorder characterized by megalencephaly, early-onset drug-resistant epilepsy, neurocognitive impairment, and high early mortality, often due to status epilepticus. PMSE is caused by a multiexon deletion in the STRADA/LYK5 gene, encoding STRADA protein, which regulates the mechanistic target of rapamycin (mTOR) pathway. GABAergic inhibitory interneurons (INs) critically...