DSF Research Review
Welcome to DSF’s Research Review! We use this space to keep you up to date on the most exciting studies that are published each month on Dravet syndrome and SCN1A. Each review includes a link to the original abstract or article (where possible), as well as a lay-person’s summary. Have questions? Email our team.
Looking for more information on research? Click on the button below to go to a list of pubmed published scientific articles on Dravet syndrome.
August 2018
Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death.
(Richards et al. 2018) SCN1A is primarily expressed in inhibitory interneurons in the brain. These cells counteract the excitatory neurons, so mutations in SCN1A disrupt inhibition, leading to too much excitation and seizures. An ideal treatment [...]
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes
(Frasier et al. 2018) It has long been known that SCN1A is expressed in heart cells as well as brain cells, and for several years scientists have hypothesized that the high rate of mortality [...]
Mapt deletion fails to rescue premature lethality in two models of sodium channel epilepsy.
(Chen et al. 2018) Excessive buildup of Tau, a protein that binds to microtubules in the brain, has been found in patients with Alzheimer's Disease, and specifically, in a mouse model of Alzheimer's with [...]
A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome
(Favero et al. 2018) Several years ago, researchers showed that Scn1a mutations in mice are primarily expressed in GABAergic interneurons, the inhibitory neurons that counteract excitatory neurons in the brain. A defect in these [...]
May 2018
Assessing the impact of caring for a child with Dravet syndrome: Results of a caregiver survey
(Campbell JD, et al. 2018) This is the second part of the survey described in the last review, in which 30 caregivers of patients with Dravet syndrome treated at Children's Hospital Colorado responded to [...]
The direct and indirect costs of Dravet Syndrome
(Whittington MD, et al. 2018) The authors sent out an online survey to 60 caregivers whose patients with Dravet syndrome were treated at Children's Hospital Colorado. The survey asked in-depth questions about how caring [...]
March 2018
Somatic mosaic deletions involving SCN1A cause Dravet syndrome
(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 [...]
Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells
(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 [...]