Variants in SLC6A1 and Doose Syndrome

Posted by & filed under Part 21: MEMBRANE TRANSPORT DISORDERS, Part 28: NEUROGENETICS.

Doose Syndrome, also known as myoclonic-astatic epilepsy, is a form of epilepsy in which the genetic etiology has been somewhat elusive. A recent study by Carvill et al (Am J Hum Genet 2015 May 7;96(5):808-15. doi: 10.1016/j.ajhg.2015.02.016) reports that pathogenic variants in GAT-1, encoded by SLC6A1, can be responsible for up to 4% of cases of myoclonic-astatic epilepsy. Carvill et al. focused on this gene in particular for targeted studies due to reports of  individuals with myoclonic-astatic epilepsy and chromosome deletions in the region covering this gene, as well as functional information about  GAT-1. Two truncations and four missense alterations in SLC6A1 were uncovered by targeted sequencing individuals with myoclonic-atonic seizures (MAE). Hilary Vernon, MD PhD

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