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Mar 14, 2014
Liu YY, Bao XH, Wang S, Fu N, Liu XY, Song FY, Yang YL, Wu Y, Zhang YH, Wu JX, Jiang YW, Qin J, Wu XR
OBJECTIVE: To analyze the clinical and SLC2A1 gene mutation characteristics of glucose transporter type 1 deficiency syndrome. METHOD: The detailed clinical manifestations of six cases were recorded. The labora...
Mar 7, 2014
Di Lorenzo C, Currà A, Sirianni G, Coppola G, Bracaglia M, Cardillo A, De Nardis L, Pierelli F
The ketogenic diet is a high-fat, low-carbohydrate diet long used to treat refractory epilepsy; ketogenesis (ketone body formation) is a physiological phenomenon also observed in patients following lowcarbohydrate, low...
Mar 7, 2014
Terek D, Koroglu O, Yalaz M, Gokben S, Calli C, Coker M, Kultursay N
Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder resulting from the defective activity of branched-chain 2-ketoacid dehydrogenase complex. Routine screening of newborn with tandem mass spectrosco...
Mar 7, 2014
Hashim SA, Vanitallie TB
Abstract Ketone bodies (KB), acetoacetate and β-hyroxybutyrate, were considered harmful metabolic by-products when discovered in the mid-nineteenth century in urine of patients with diabetic ketoacidosis. It took physi...
Mar 4, 2014
McDonald TS, Tan KN, Hodson MP, Borges K
Medium chain triglycerides (MCTs) are used to treat neurologic disorders with metabolic impairments, including childhood epilepsy and early Alzheimer's disease. However, the metabolic effects of MCTs in the brain are s...
Feb 28, 2014
Vigevano F, Arzimanoglou A, Plouin P, Specchio N
Epileptic encephalopathies (EEs) are electroclinical entities with a peculiar course of disease; seizures and electroencephalographic (EEG) epileptiform abnormalities, ictal and interictal, contribute to progressive di...
Feb 25, 2014
Hirano Y, Oguni H, Shiota M, Nishikawa A, Osawa M
Purpose: Ketogenic diet therapy (KD) has been used to treat children with refractory generalized epilepsy. We herein reported the efficacy of KD for West syndrome (WS) resistant to ACTH therapy. Subjects: Subjects, con...
Feb 25, 2014
Caraballo RH, Reyes G, Avaria MF, Buompadre MC, Gonzalez M, Fortini S, Cersosimo R
PURPOSE: To analyze the electroclinical features, neuroimaging findings, treatment, and outcome of 12 patients with febrile infection-related epilepsy syndrome (FIRES). METHODS: This is a retrospective study of...
Feb 25, 2014
Strzelczyk A, Reif PS, Bauer S, Belke M, Oertel WH, Knake S, Rosenow F
Feb 22, 2014
Klepper J, Leiendecker B
The classical ketogenic diet has been used for refractory childhood epilepsy for decades. It is also the treatment of choice for disorders of brain energy metabolism, such as Glut1 deficiency syndrome. Novel ketogenic ...