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May 12, 2017
Amalou S, Gras D, Ilea A, Greneche MO, Francois L, Bellavoine V, Delanoe C, Auvin S
AIM: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) results from impaired glucose transport into the brain, and is treated with a ketogenic diet. A few reports have suggested effectiveness of treatment using...
May 11, 2017
Liu YC, Lee JW, Bellows ST, Damiano JA, Mullen SA, Berkovic SF, Bahlo M, Scheffer IE, Hildebrand MS, Clinical Group
AIM: Loss-of-function mutations in SLC2A1, encoding glucose transporter-1 (GLUT-1), lead to dysfunction of glucose transport across the blood-brain barrier. Ten percent of cases with hypoglycorrhachia (fasting cerebros...
May 11, 2017
Sampaio LPB, Takakura C, Manreza MLG
The ketogenic diet (KD) is a nonpharmacologic treatment that has been used for refractory epilepsy since 1921. The KD is a high-fat, low-carbohydrate, and restricted protein diet, which is calculated and weighed for ea...
May 11, 2017
Wang YQ, Zhang MQ, Li R, Qu WM, Huang ZL
Sleep and epilepsy are mutually related in a complex, bidirectional manner. However, our understanding of this relationship remains unclear. In this paper, we address the issues involved in these phenomena and also dis...
May 10, 2017
Simeone TA, Matthews SA, Samson KK, Simeone KA
The ketogenic diet (KD) is an effective therapy primarily used in pediatric patients whom are refractory to current anti-seizure medications. The mechanism of the KD is not completely understood, but is thought to invo...
May 10, 2017
Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB
BACKGROUND: Infantile gangliosidoses include GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease). To date, natural history studies in infantile GM2 (iGM2) have been retrospective and conduct...
May 10, 2017
Albenzio M, Santillo A, Caroprese M, Della Malva A, Marino R
Proteins of animal origin represent physiologically active components in the human diet; they exert a direct action or constitute a substrate for enzymatic hydrolysis upon food processing and consumption. Bioactive pep...
May 5, 2017
Ninković D, Sarnavka V, Bašnec A, Ćuk M, Ramadža DP, Fumić K, Kušec V, Santer R, Barić I
Hyperinsulinism-hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease characterized by recurrent hypoglycemia and persistent mild elevation of plasma ammonia. HI/HA syndrome is one of the more common for...
May 5, 2017
Hallowell S, Tebedge E, Oates M, Hand E
Anti-N-methyl d-aspartate receptor (anti-NMDAR) encephalitis is a devastating disease that is increasingly being identified in both children and adults with psychosis, language disturbances, behavioral changes, and mot...
Apr 30, 2017
Koesters T, Friedman KP, Fenchel M, Zhan Y, Hermosillo G, Babb J, Jelescu IO, Faul D, Boada FE, Shepherd TM
UNLABELLED: Simultaneous PET/MR of the brain is a promising technology for characterizing patients with suspected cognitive impairment or epilepsy. Unlike CT, however, MR signal intensities do not correlate directly wi...

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