Research Review 2017-01-30T12:50:37+00:00

DSF Research Review

Welcome to DSF’s Research Review! We use this space to keep you up to date on the most exciting studies that are published each month on Dravet syndrome and SCN1A. Each review includes a link to the original abstract or article (where possible), as well as a lay-person’s summary. Have questions? Email Nicole.

Looking for more information on research? Click on the button below to go to a list of pubmed published scientific articles on Dravet syndrome.

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March 2017

February 2017

Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features

By | February 10th, 2017|Categories: DSF Research Review|Tags: , |

(Aljaafari, et. al. 2017). In this brief communication, published in Epilepsia, the authors examined the motor differences between 14 adult patients with Dravet syndrome (DS) and 14 adult patients with Lennox-Gastaut syndrome (LGS). They [...]

January 2017

December 2016

November 2016

October 2016

September 2016

Temperature effects on the sodium ion channel

By | September 1st, 2016|Categories: DSF Research Review|

Peters, C. et al. Temperature-dependent changes in neuronal dynamics in a patient with an SCN1A mutation and hyperthermia induced seizures. It is well documented that cells with SCN1A mutations exhibit abnormal electrical activity when subjected to increased temperature. This [...]

Stiripentol in a French Cohort

By | September 1st, 2016|Categories: DSF Research Review|

De Liso, P., et. al. (Sept 2016). Patients with Dravet syndrome in the era of stiripentol: A French cohort cross-sectional study. Because stiripentol is approved for use in Europe, it is has been prescribed [...]

July 2016

Clinical Treatment

By | July 3rd, 2016|Categories: DSF Research Review|

The role of VNS and surgery in Dravet syndrome is debatable, and neurologists have little data on effectiveness. One very small study reviewed the success rate of these surgeries at a particular institution (Dlouhy, et. [...]

Basic Science

By | July 3rd, 2016|Categories: DSF Research Review|

More supporting evidence of the interneuron hypothesis of Dravet syndrome arose this summer after researchers found decreased sodium currents and action potential firing in inhibitory patient-derived Dravet iPSC neurons, but normal function in excitatory [...]

SCN1A

By | July 1st, 2016|Categories: DSF Research Review|

Two new cases of truncating (or nonsense) SCN1A mutations without the severe outcome of Dravet syndrome were described (Takaori, et. al. 2016). One, an 11-year old with approximately one seizure per year on two [...]

June 2016

May/June Research

By | June 10th, 2016|Categories: DSF Research Review|

May and the first part of June saw a surge in Dravet syndrome publications. Nearly half of those publications were from one journal, The Canadian Journal of Neurological Sciences. This journal ran a 23-page series [...]

May 2016

April Research

By | May 6th, 2016|Categories: DSF Research Review|

Welcome back! The peer-reviewed literature relevant to Dravet that was published in April focused on investigations at the gene level, with one exception for a zebrafish metabolism study. We are still working on the best [...]