Unexpected efficacy of a novel sodium channel modulator in Dravet syndrome

By |2017-05-10T19:56:54-05:00May 10th, 2017|Categories: DSF Research Review|Tags: , , , |

(Anderson LL et al. 2017). Sodium channel blockers usually make seizures worse in Dravet syndrome, which can be a confusing concept since we associate problems with the sodium ion channel due to SCN1A mutations leading to overexcitation and, hence, seizures. The key to understanding this apparent contradiction is that SCN1A is mainly expressed in inhibitory interneurons. [...]

Fatal cerebral edema with status epilepticus in children with Dravet syndrome: Report of 5 cases

By |2017-05-10T18:21:52-05:00May 10th, 2017|Categories: DSF Research Review|Tags: , , |

(Myers K et al. 2017) Mortality in Dravet syndrome is recognized at 15-20% by adulthood. Approximately half of those deaths are due to SUDEP, while about 1/4 are due to status epilepticus (SE). This study looked closely at that second group, those who died from SE, examining the characteristics of 5 patients from Australia who [...]

Clinical and neuroimaging features of acute encephalopathy after status epilepticus in Dravet syndrome

By |2017-05-08T22:59:25-05:00May 8th, 2017|Categories: DSF Research Review|Tags: , , |

(Tian XJ et al. 2017).  Acute encephalopathy (AE) is a term used to describe brain disease, damage, or malfunction that occurs with an abrupt onset and is progressive in nature. In Dravet syndrome, acute encephalopathy can be the result of a prolonged seizure. This study, which was published in Chinese and is therefore reviewed by [...]

Early-life febrile seizures worsen adult phenotypes in SCN1A mutants

By |2017-05-08T20:51:43-05:00May 8th, 2017|Categories: DSF Research Review|Tags: , |

(Dutton SBB et al. 2017). Many patients with Dravet syndrome experience prolonged early-life febrile seizures. Although the occurrence of these events in relation to vaccines and the resulting adult presentation has been studied (here), the presence of prolonged febrile seizures themselves and subsequent effects on presentation have not been researched extensively. This study subjected mice with [...]

Pharmacological analysis of the anti-epileptic mechanisms of fenfluramine in SCN1A mutant zebrafish

By |2017-06-24T03:51:07-05:00May 8th, 2017|Categories: DSF Research Review|Tags: , , , |

(Sourbron J et al. 2017). Fenfluramine (FA) is known to affect serotonin (5-HT) levels in the brain, but there are several different 5-HT receptor subtypes that may be involved in FA's mechanism of action. This study explored the anti-epileptic mechanisms of FA in SCN1Lab-mutant zebrafish by selectively targeting each of the receptors believed to be involved [...]

Stiripentol in the management of epilepsy

By |2019-06-03T11:35:26-05:00May 8th, 2017|Categories: DSF Research Review|Tags: |

(Nickels KC, Wirrell EC 2017). This article reviews the current knowledge on stiripentol (Diacomit), as related to its mechanism of action (including its effects on the GABA-A receptor and inhibition of lactate dehydrogenase, a key enzyme in the brain used in the conversion of lactate to pyruvate); inhibition of several cytochrome P450 enzymes; safety and [...]

The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research

By |2017-05-08T16:18:09-05:00May 8th, 2017|Categories: DSF Research Review|Tags: , |

(Jensen, et al. 2017). A team of physicians from Washington, the United Kingdom, Colorado, and Zogenix, Inc. reviewed the published literature on the burden of Dravet syndrome (DS) on caregivers and families. Instead of examining diagnostic criteria, treatment/management, seizure control, etc., they looked specifically for how DS affects the caregiver and families both humanistically and economically. [...]