UNC13A Variants Disrupt Synaptic Function, Cause Neurodevelopmental Syndrome
TL;DR
Pathogenic variants in UNC13A impair synaptic function, causing a neurodevelopmental syndrome with diverse clinical features, including profound developmental delay, seizures, and movement disorders, through mechanisms affecting protein expression and synaptic plasticity.
Topics:healthscience#genetic-variants#neurodevelopmental-syndrome#neurotransmission#science#synaptic-function#unc13a
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