[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 [...]

The synthetic neuroactive steroid SGE-516 reduces seizure burden and improves survival in a Dravet syndrome mouse model

By |2018-01-23T11:09:07-05:00November 23rd, 2017|Categories: DSF Research Review|Tags: , |

(Hawkins et al. 2017) Benzodiazepines like clobazam and diazepam target GABAA receptors located in the synaptic area of neurons. Other medication families, like neurosteroids, can target GABAA receptors beyond the synapses. In previous work, the authors found that a synthetic steroid, SGE-516, reduced seizures in one model of epilepsy. In this study, they tested the [...]

Growth and endocrine function in children with Dravet syndrome

By |2018-01-22T16:16:37-05:00November 22nd, 2017|Categories: DSF Research Review|Tags: , , , |

(Eschbach et al. 2017) The authors reviewed the charts of 68 patients with Dravet syndrome treated at Children's Hospital Colorado. They found that the children's height and weight fell further below average as the patient aged, and could not be attributed to gender, family history, or anti-seizure medications. Because height fell below normal before weight, [...]

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

By |2018-01-23T12:10:59-05:00November 15th, 2017|Categories: DSF Research Review|Tags: , , |

(Yang et al. 2017) Most cases of mosaicism (where a mutation occurred shortly after fertilization and thus not all body cells carry it) found in parents of patients with DS are determined through blood samples. However, because different cells of the body are descended from different types of embryonic cells, the percentage of mutated SCN1A in [...]

Parental perception of co-morbidities in children with Dravet syndrome

By |2018-01-22T15:39:39-05:00November 10th, 2017|Categories: DSF Research Review|Tags: , |

(Knupp, et al. 2017) This online survey of 202 caregivers measured frequencies of reported comorbidities commonly associated with Dravet syndrome. 99% of caregivers reported an issue with appetite, 82% reported sleep concerns, 75% reported falls and balance concerns, and 69% reported significant concerns with the patient's attention. Detailed analysis showed that most concerns outpaced the [...]