De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome

By |2017-01-24T17:18:51+00:00January 24th, 2017|Categories: DSF Research Review|Tags: , |

(Myers, et. al. 2017). GEFS+ (Generalized Epilepsy with Febrile Seizures Plus) is somewhere near the middle of the spectrum of SCN1A-related disorders that places migraines or simple febrile seizures at the mild end and Dravet syndrome at the severe end. It has traditionally been thought of as a familial epilepsy syndrome because the mutations found [...]

Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome

By |2017-01-14T18:08:33+00:00January 14th, 2017|Categories: DSF Research Review|Tags: , , , , |

(Griffin, et. al 2017). Building on previous drug screening in a Dravet syndrome model of zebrafish that identified clemizole, a histamine (H1) receptor antagonist, as having anti-epileptic properties, this study sought to further examine the mechanisms of clemizole's action and expand the class of serotonin-acting compounds to include, among others, the FDA-approved drugs lorcaserin (Belviq) and [...]

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

By |2017-01-04T20:56:50+00:00January 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 [...]

Photosensitivity in Dravet syndrome is under-recognized and related to prognosis.

By |2017-01-04T20:42:38+00:00January 4th, 2017|Categories: DSF Research Review|Tags: |

(Verbeek, et. al. 2016). In a study of 53 patients with Dravet syndrome in the Netherlands, a response was seen on EEG (not necessarily correlated with clinical symptoms) in 42%. Those who showed a response on EEG were more likely to have other spontaneous epileptiform discharges on the EEG. Sixty-five percent of the patients either had [...]