2018 Oct 31 - Role for NaV1.3 in the developing cerebral cortex
Dr Richard S. Smith
Postdoctoral Research Fellow, Department of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School.
Dr Courtney Anderson
Applications Leader and Senior Scientist, Advanced Cell Diagnostics

Channelopathies are disorders caused by abnormal ion channel function in differentiated excitable tissues. Dr. Richard Smith’s current research in the lab of Dr. Christopher Walsh has discovered a unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel NaV1.3. Pathogenic NaV1.3 channels showed altered biophysical properties including increased persistent current. Remarkably, affected individuals showed disrupted folding (polymicrogyria) of the perisylvian cortex of the brain but did not typically exhibit epilepsy; they presented with prominent speech and oral motor dysfunction, implicating SCN3A in prenatal development of human cortical language areas. The development of this disorder parallels SCN3A expression, which we observed to be highest early in fetal cortical development in progenitor cells of the outer subventricular zone and cortical plate neurons and decreased postnatally, when SCN1A (NaV1.1) expression increased. Disrupted cerebral cortical folding and neuronal migration were recapitulated in ferrets expressing the mutant channel, underscoring the unexpected role of SCN3A in progenitor cells and migrating neurons

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Learning Objectives:

This webcast will help you understand:

  • New insights into the role of sodium channels in the developing brain.
    • Detection of sodium channels in the developing human brain.
    • Role for sodium channels in gyrification.
    • Pathogenic channels result in cortical malformation disease.
  • How to use RNAscope in situ technologies to visualize SCN3A in the fetal brain.
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