Protective effect of the ketogenic diet in Scn1a mutant mice

Epilepsia. 2011 Nov;52(11):2050-6. doi: 10.1111/j.1528-1167.2011.03211.x. Epub 2011 Jul 29.

Abstract

Purpose: We evaluated the ability of the ketogenic diet (KD) to improve thresholds to flurothyl-induced seizures in two mouse lines with Scn1a mutations: one that models Dravet syndrome (DS) and another that models genetic (generalized) epilepsy with febrile seizures plus (GEFS+).

Methods: At postnatal day 21, mouse models of DS and GEFS+ were fasted for 12-14 h and then placed on either a 6:1 (fats to proteins and carbohydrates) KD or a standard diet (SD) for 2 weeks. At the end of the 2-week period, we measured thresholds to seizures induced by the chemiconvulsant flurothyl. Body weight, β-hydroxybutyrate (BHB) levels, and glucose levels were also recorded every 2 days over a 2-week period in separate cohorts of mutant and wild-type mice that were either on the KD or the SD.

Key findings: Mice on the KD gained less weight and exhibited significantly higher BHB levels compared to mice on the SD. It is notable that thresholds to flurothyl-induced seizures were restored to more normal levels in both mouse lines after 2 weeks on the KD.

Significance: These results indicate that the KD may be an effective treatment for refractory patients with SCN1A mutations. The availability of mouse models of DS and GEFS+ also provides an opportunity to better understand the mechanism of action of the KD, which may facilitate the development of improved treatments.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Hydroxybutyric Acid / blood
  • Animals
  • Convulsants / pharmacology
  • Diet, Ketogenic*
  • Disease Models, Animal
  • Dose-Response Relationship, Drug
  • Epilepsy, Generalized / diet therapy*
  • Epilepsy, Generalized / genetics
  • Epithelial Sodium Channels / genetics
  • Flurothyl / pharmacology
  • Mice
  • Mice, Knockout / genetics
  • Mice, Knockout / physiology
  • Seizures / chemically induced
  • Seizures / prevention & control
  • Weight Gain

Substances

  • Convulsants
  • Epithelial Sodium Channels
  • Scnn1a protein, mouse
  • Flurothyl
  • 3-Hydroxybutyric Acid