Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.

By |2017-07-24T17:16:45-05:00July 24th, 2017|Categories: DSF Research Review|Tags: |

(Hammer MF, et al. 2017) There is a broad spectrum of severity in Dravet syndrome, even among patients who have the same SCN1A mutation, which suggests other genes may play a role in modifying the clinical outcome. Mouse lines with a specific mutation can exhibit differing severities depending on the strain of mouse with which [...]

Cacna1q is a genetic modifier of epilepsy in a mouse model of Dravet syndrome

By |2017-07-09T16:21:51-05:00July 9th, 2017|Categories: DSF Research Review|Tags: , |

(Calhoun, et al. 2017) There are several different mouse models for Dravet syndrome, and researchers have shown that the same disease-causing mutation can present differently depending on which strain of mouse is used in breeding. This suggests there may be genetic modifiers that influence the severity of Dravet syndrome. The authors of this article had [...]

Fine mapping of a Dravet syndrome modifier locus on mouse chromosome 5 and candidate gene analysis by RNA-seq

By |2016-11-17T19:45:23-05:00October 28th, 2016|Categories: DSF Research Review|Tags: , , |

(Hawkins, et. al. 2016). Because two people with the same SCN1A mutation can present with substantially different symptoms, often at opposite ends of the spectrum, scientists know there must be modifiers that affect how SCN1A mutations manifest in clinical severity. In fact, creating a Dravet syndrome mouse line is not as simple as inserting a [...]