Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate.

Synapsins are neuron-specific phosphoproteins that modulate neurotransmitter release, synaptic plasticity, and molecular processes shaping higher brain functions. Pathogenic synapsin-1 () variants are associated with epilepsy, intellectual disabilities, and behavioral problems. We detected a novel variant [c.