Somatic mosaic deletions involving SCN1A cause Dravet syndrome

By |2018-03-04T12:31:57+00:00March 4th, 2018|Categories: DSF Research Review|Tags: , |

(Nakayama et al. 2018) Although 10-20% of patients with Dravet syndrome test negative for SCN1A mutations on standard tests, researchers have been able to identify mutations with improved testing methods. This study examined 230 cases of Dravet syndrome with apparently negative SCN1A results and found 2 mosaic microdeletions of the entire SCN1A gene. Mosaic mutations occur sometime after [...]

Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells

By |2018-03-04T12:09:40+00:00March 4th, 2018|Categories: DSF Research Review|Tags: , , , |

(Tatsukawa et al. 2018) When scientists first started studying Scn1a in mice, their only option was to generate a mouse family that had a human Dravet-like mutation (that rendered the gene non-functional) or not. That is, the mice either had the mutation in all of their cells, or they didn't. With new techniques, scientists are now [...]