Clinical Treatment

By |2016-11-03T15:05:33-05:00July 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. al. 2016). Eight surgeries performed on seven patients with Dravet syndrome (one child had both a VNS implanted and, subsequently, a [...]

Basic Science

By |2016-11-03T15:05:05-05:00July 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 Dravet neurons (Sun, et. al. 2016). (What is the inhibitory interneuron hypothesis? It is the prevailing belief that many SCN1A mutations [...]

SCN1A

By |2016-11-03T15:02:17-05:00July 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 anti-epileptic medications, showed “moderate mental retardation.” The other, a 4-year old whose only seizures were febrile, showed a “borderline developmental quotient,” [...]