(Haginoya et al. 2018) This study out of Japan examined the glucose uptake in the brain of 8 patients with Dravet syndrome, 4 of whom were three years or younger, and 4 of whom were 6 years and older. During the fluorodeoxyglucose positron emission tomography (FDG-PET) scan, the patients were injected with a chemically labeled form of glucose, and images of the rate at which different tissues use the glucose was measured with the scanner. This type of scan is often used to detect cancerous tissue, since cancer grows more rapidly than healthy tissue and thus uses glucose more quickly.

In the young patients with Dravet syndrome (3 years and younger), glucose uptake was normal compared with healthy subjects. However, in the older patients (6+ yrs), glucose uptake was significantly decreased. The study examined each portion of the brain and found uptake was decreased the most in the fronto-temporo-parietal-occipital cortices (the four components of the cerebral cortex). It is unclear whether the decrease is due to SCN1A mutations themselves or a result of the epileptic encephalopathy (i.e. the seizures have caused damage).

Haginoya K, Togashi N, Kaneta T, Hino-Fukuyo N, Ishitobi M, Kakisaka Y, Uematsu M, Inui T, Okubo Y, Sato R, Miyabayashi T, Arai A, Ogiwara I, Mazaki E, Yamakawa K, Iinuma K, Kure S. [18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome. Epilepsy Res. 2018 Aug 27;147:9-14. doi: 10.1016/j.eplepsyres.2018.08.008. [Epub ahead of print] PubMed PMID: 30176532.