Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome

By |2017-01-04T20:56:50-05:00January 4th, 2017|Categories: DSF Research Review|Tags: , |

(Ishii, A. et. al. 2017). In studying the mutations in a large group of 285 Japanese patients with Dravet syndrome, the authors found that missense mutations were found more often in a few specific, highly functional areas of the sodium ion channel. Truncation mutations were associated with a more rapid rate of cognitive decline, regardless [...]