(Kumar et al. 2018) Similar to the last study reviewed, the authors examined the fluorodeoxyglucose positron emission tomography (FDG-PET) scans of 3 patients with refractory epilepsy and SCN1A mutations. (Recall, FDG-PET scans provide images of the rate at which glucose is utilized by brain tissue.) However, in this study, the patients were imaged at least twice: Once between 6 months and 1 year of age, and then again around age 3-5.  Similar to the last study, results of the early life imaging were mostly normal. At followup, however, significant decreases in glucose uptake were seen, particularly in the frontal, parietal, and temporal cortices, on both sides of the brain.

Although it is still unclear whether the decrease is due to SCN1A mutations or the epileptic encephalopathy (a result of seizures), this study confirms the trend found in the last study and suggests this area should be studied more.

Kumar A, Juhász C, Luat A, Govil-Dalela T, Behen ME, Hicks MA, Chugani HT. Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants. J Child Neurol. 2018 Sep 5:883073818796373. doi: 10.1177/0883073818796373. [Epub ahead of print] PubMed PMID: 30182801.