Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network

By |2018-10-13T12:47:18-05:00October 13th, 2018|Categories: DSF Research Review|Tags: , |

(Ho et al. 2018) The Rare Epilepsy Network (REN), a collaboration among more than 30 rare epilepsy patient groups including the Dravet Syndrome Foundation, released the first summary of data collected through their web-based, patient-reported database. 795 patients and caregivers participated, 106 of which were identified as Dravet syndrome, representing the 3rd largest group of [...]

A novel GABAergic dysfunction in human Dravet syndrome

By |2018-10-13T12:05:18-05:00October 13th, 2018|Categories: DSF Research Review|Tags: |

(Ruffolo et al. 2018) Gamma-aminobutyric acid (GABA) is a small compound that acts on different receptors in the brain such as GABAA and GABAB and is considered one of the main inhibitory neurotransmittors. Dysfunction of the GABAergic system is found in many neurological disorders, and although mutations in genes that code for subunits of GABA [...]