Upcoming EL-PFDD Meeting February 3rd!


Upcoming EL-PFDD Meeting February 3rd!

About Nicole Villas

Nicole is a former scientist and science educator who has an 11 year old son with Dravet syndrome and serves on the Board of Directors for the Dravet Syndrome Foundation. She reviews and summarizes research articles, making the content more accessible to those not involved in the scientific community.

Remembering Charlotte

By |2020-04-08T16:21:22-05:00April 8th, 2020|Categories: Decoding Dravet Blog|

Our community is mourning the loss of a special little girl, Charlotte Figi, who had Dravet syndrome and became the face of CBD and the cannabis legalization movement. She touched so many lives in her 13 short years, changed so many minds, and empowered her mom, Paige Figi, to move such enormous mountains that it feels like [...]

Zebrafish studies identify serotonin receptors mediating antiepileptic activity in Dravet syndrome

By |2019-08-14T10:51:58-05:00August 14th, 2019|Categories: DSF Research Review|

In 2013, the Baraban Lab published their work on creating and characterizing an scn1lab mutant model of zebrafish that results in many symptoms of the human disease Dravet syndrome. In that initial report, they described how they used the model to screen thousands of compounds for both anti-seizure effects and non-toxicity, identifying several targets for [...]

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 [...]

Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants.

By |2018-09-13T09:30:14-05:00September 13th, 2018|Categories: DSF Research Review|Tags: , |

(Kumar et al. 2018) Similar to the last study reviewed, the authors examined the fluorodeoxyglucose positron emission tomography (FDG-PET) scans of 3 patients with refractory epilepsy and SCN1A mutations. (Recall, FDG-PET scans provide images of the rate at which glucose is utilized by brain tissue.) However, in this study, the patients were imaged at least [...]

[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome.

By |2018-09-13T09:14:39-05:00September 13th, 2018|Categories: DSF Research Review|Tags: , |

(Haginoya et al. 2018) This study out of Japan examined the glucose uptake in the brain of 8 patients with Dravet syndrome, 4 of whom were three years or younger, and 4 of whom were 6 years and older. During the fluorodeoxyglucose positron emission tomography (FDG-PET) scan, the patients were injected with a chemically labeled [...]

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 [...]


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