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Genetic Basis of Pyridoxine-Responsive Neonatal Epilepsy in Consanguineous Families

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Published on Sep 9, 2015

In this webinar, Hilal Al Shekaili will cover how he and his team used whole-genome SNP genotyping, genome-wide runs of homozygosity (RoH) mapping using SVS, and whole-exome sequencing to characterize the genetic defect underlying PREE in a consanguineous Omani Arab family with two affected children who have a PDE-like clinical picture but negative ATQ biomarkers.

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