Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate
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DOI: 10.1055/a-2019-0136
Abstract: Abstract Synapsins are neuron-specific phosphoproteins that modulate neurotransmitter release, synaptic plasticity, and molecular processes shaping higher brain functions. Pathogenic synapsin-1 ( SYN1 ) variants are associated with epilepsy, intellectual disabilities, and behavioral problems. We detected… read more here.
Keywords: syn1 variant; brothers focal; syn1; novel syn1 ... See more keywords