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May 19, 2017
Brigo F, Igwe SC, Bragazzi NL
BACKGROUND: This is an updated version of the original Cochrane review published in 2015, Issue 10.Severe myoclonic epilepsy in infants (SMEI), also known as Dravet syndrome, is a rare, refractory form of epilepsy, for...
May 18, 2017
Sansotta N, Guandalini S, Amirikian K, Jericho H
OBJECTIVE: To evaluate the efficacy of the gluten free diet (GFD) on gastrointestinal and extra-intestinal symptom resolution and identify predictors for persistence of symptoms in all celiac patients at the University...
May 17, 2017
Habarou F, Bahi-Buisson N, Lebigot E, Pontoizeau C, Abi-Warde MT, Brassier A, Le Quan Sang KH, Broissand C, Vuillaumier-Barrot S, Roubertie A, Boutron A, Ottolenghi C, de Lonlay P
OBJECTIVE: Ketogenic diet is the first line therapy for neurological symptoms associated with pyruvate dehydrogenase deficiency (PDHD) and intractable seizures in a number of disorders, including GLUT1 deficiency syndr...
May 16, 2017
Newell C, Johnsen VL, Yee NC, Xu WJ, Klein MS, Khan A, Rho JM, Shearer J
BACKGROUND: Protein O-linked-β-N-acetyl glucosamine (O-GlcNAc) is a post-translational modification to Ser/Thr residues that integrates energy supply with demand. Abnormal O-GlcNAc patterning is evident in several neur...
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...

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