Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants

Ananyaa Kumar, Csaba Juhász, Aimee Luat, Tuhina Govil-Dalela, Michael E. Behen, Melissa A. Hicks, Harry T. Chugani

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Three children with drug-refractory epilepsy, normal magnetic resonance image (MRI), and a heterozygous SCN1A variant underwent 2-deoxy-2-[18F]fluoro-d-glucose positron emission tomography (FDG-PET) scanning between age 6 months and 1 year and then at age 3 years 6 months to 5 years 5 months. Regional FDG uptake values were compared to those measured in age- and gender-matched pseudo-controls. At baseline, the brain glucose metabolic pattern in the SCN1A group was similar to that of the pseudo-controls. At follow-up, robust decreases of normalized FDG uptake was found in bilateral frontal, parietal and temporal cortex, with milder decreases in occipital cortex. Children with epilepsy and an SCN1A variant have a normal pattern of cerebral glucose metabolism at around 1 year of age but develop bilateral cortical glucose hypometabolism by age 4 years, with maximal decreases in frontal, parietal, and temporal cortex. This metabolic pattern may be characteristic of epilepsy associated with SCN1A variants and may serve as a biomarker to monitor disease progression and response to treatments.

Original languageEnglish
Pages (from-to)832-836
Number of pages5
JournalJournal of Child Neurology
Issue number13
StatePublished - Nov 1 2018


  • SCN1A
  • epilepsy
  • genetics
  • longitudinal


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