Upcoming EL-PFDD Meeting February 3rd!


Upcoming EL-PFDD Meeting February 3rd!

Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death.

By |2018-08-31T16:39:43-05:00August 31st, 2018|Categories: DSF Research Review|Tags: , |

(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 would be one that encourages the inhibitory neurons to work more efficiently without simultaneously increasing excitatory neuron function. Based on previous [...]

Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes

By |2018-08-31T15:28:47-05:00August 31st, 2018|Categories: DSF Research Review|Tags: , , |

(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 in patients with Dravet syndrome could be due in part to some dysfunction in the heart caused by SCN1A mutations. The [...]

Mapt deletion fails to rescue premature lethality in two models of sodium channel epilepsy.

By |2018-09-13T09:20:48-05:00August 25th, 2018|Categories: DSF Research Review|

(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 epilepsy. As such, finding ways to reduce the buildup of Tau has been the subject of research in epilepsy for the [...]

A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome

By |2018-08-15T11:24:21-05:00August 15th, 2018|Categories: DSF Research Review|Tags: , , |

(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 inhibitory neurons causes excess excitation, resulting in seizures and epilepsy in Dravet syndrome. However, that research was done primarily on brain [...]


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