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.

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 [...]

Assessing the impact of caring for a child with Dravet syndrome: Results of a caregiver survey

By |2018-05-02T12:55:07-05:00May 2nd, 2018|Categories: DSF Research Review|Tags: , |

(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 questions regarding the impact of caring for their patients. In this part, the authors describe anxiety/depression and discomfort/pain as the greatest [...]

The direct and indirect costs of Dravet Syndrome

By |2018-05-02T10:24:39-05:00May 2nd, 2018|Categories: DSF Research Review|Tags: , |

(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 for an individual with Dravet syndrome has affected their family and work experience, and 34 caregivers responded. The average direct health [...]

Somatic mosaic deletions involving SCN1A cause Dravet syndrome

By |2018-03-04T12:31:57-05:00March 4th, 2018|Categories: DSF Research Review|Tags: , |

(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 of Dravet syndrome with apparently negative SCN1A results and found 2 mosaic microdeletions of the entire SCN1A gene. Mosaic mutations occur sometime after [...]

Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells

By |2018-03-04T12:09:40-05:00March 4th, 2018|Categories: DSF Research Review|Tags: , , , |

(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 is, the mice either had the mutation in all of their cells, or they didn't. With new techniques, scientists are now [...]

Brain activity patterns in high-throughput electrophysiology screen predict both drug efficacies and side effects

By |2018-02-05T16:45:33-05:00February 5th, 2018|Categories: DSF Research Review|Tags: , |

(Eimon et al. 2018) In this study, the authors used two Dravet-like zebrafish models, each with a different mutation, to describe a method of monitoring zebrafish larvae via implanted electrodes (as opposed to external EEG-like electrodes) to predict drug efficacy and side effects. This method uses several measurements of brain activity patterns both during and [...]

Severe peri-ictal respiratory dysfunction is common in Dravet syndrome

By |2018-01-23T13:20:20-05:00January 23rd, 2018|Categories: DSF Research Review|Tags: , , |

(Kim et al. 2018) SUDEP is believed to be caused by cardiorespiratory arrest (or the stopping of the heart and breathing). However, it is not clear whether heart rate slows and stops, causing respirations to stop, or vice versa. Because SCN1A is expressed in heart tissue as well as brain tissue, scientists have hypothesized that SUDEP [...]

Sleep problems in Dravet syndrome: a modifiable comorbidity

By |2018-01-22T16:47:16-05:00January 22nd, 2018|Categories: DSF Research Review|Tags: |

(Licheni et al. 2017) 57 patients from Australia completed a sleep questionnaire, with 75% reporting problems. The most commonly reported problem was difficulty initiating and maintaining sleep, with sleep-wake transition disorders second most common. 53%  had nocturnal seizures. 16 patients were monitored by pulse oximetry overnight, and 14 of those had a higher than normal [...]

Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort study

By |2018-01-22T15:59:17-05:00January 1st, 2018|Categories: DSF Research Review|Tags: , , |

(Lagae et al. 2017) This survey of 584 mostly European caregivers of patients with Dravet syndrome took a different approach than the previous surveys, measuring the frequency of several different convulsive seizures and comparing seizure burden to comorbidities. Patients with the highest current seizure frequency (CSF) had more severely affected speech and motor profiles than [...]

[Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome]

By |2018-01-23T11:40:40-05:00November 23rd, 2017|Categories: DSF Research Review|Tags: |

(Liu et al. 2017. Article in Chinese) In the past several years, careful and sensitive DNA sequencing techniques have revealed that a small but significant percentage of parents of patients with DS who initially test negative for the child's mutation are actually mosaic for the mutation. That is, instead of the mutation being present in [...]


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