Sharon Primeaux

TL;DR: Electroencephalography in G1D individuals revealed nutrition time-dependent seizure oscillations often associated with preserved volition despite electrographic generalization and uniform average oscillation duration and periodicity, suggesting increased facilitation of an underlying neural loop circuit.

TL;DR: In this article , the authors proposed a nearly direct pathway for metabolic substrate transfer to neural cells that complements the better characterized plasma to endothelium transfer, which was further substantiated by in vitro measurement of direct erythrocyte to endothelial cell glucose flux.

TL;DR: In this paper , a 3 + 3 dose-finding approach was used to establish a maximum, potentially greater dose of triheptanoin for Glucose transporter type 1 deficiency encephalopathy (G1D).

TL;DR: In this paper , the compatibility of triheptanoin at maximum tolerable dose with the ketogenic diet was examined in 10 Glucose transporter type 1 deficiency (G1D) individuals using clinical and electroencephalographic analyses, glycemia, and four and five-carbon ketosis.

TL;DR: In this article , the electrographic spike-waves characteristic of absence seizures often resemble those of glucose transporter type 1 deficiency and, since the 1940s, they have occasionally been successfully treated with acetazolamide, well before G1D was segregated from absence epilepsy as a distinct syndrome.